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Darier's disease (DD) is an autosomal dominant genodermatosis characterized by hyperkeratotic papules, often accompanied by scaling and crusting. Managing DD presents significant challenges due to the absence of an effective cure, with only symptom targeting treatments currently available. This study presents a case of refractory DD that showed poor response to established pharmacological treatments but demonstrated improvement with low-dose superficial X-ray radiotherapy (SRT). The radiation was delivered as a single 200 cGy treatment, which visibly improved the condition. Considering the different degrees of side effects, sequelae, and risk of developing radiation-induced cancer after exposure to moderate levels of radiation, it may be considered that we attempt to treat recalcitrant DD initially by applying a low dose of radiation in order to mitigate these undesired side effects. If larger doses or additional courses are necessary due to inadequate response, the risks and benefits must be carefully evaluated and discussed with patients. [ABSTRACT FROM AUTHOR]

Acne keloidalis nuchae (AKN) is a condition that involves chronic inflammation of the hair follicles on the occipital scalp and posterior neck that often progresses to keloid-like plaques. AKN has most commonly been reported to affect postpubertal males of African descent. The cause of AKN has not been definitively described; however, it is likely an inflammatory response to trauma or infection of the scalp. AKN is associated with chronic scalp folliculitis, hidradenitis suppurativa, folliculitis decalvans, acne mechanica, keratosis follicularis spinulosa decalvans, cutis verticis gyrata, metabolic syndrome, acanthosis nigricans, and hypothyroidism. Treatment for AKN begins with topicals, antibiotics, and intralesional steroid injections. Refractory cases are treated with laser and surgery. Isotretinoin, cryotherapy, phototherapy, electrosection, and radiotherapy have also been effective in treating AKN but are less commonly used. In this review, we describe the existing understanding of AKN with a focus on comorbid conditions and available treatment options. [ABSTRACT FROM AUTHOR]

Acitretin is a synthetic, second-generation retinoid mainly used for the treatment of Darier's disease (DD), which impacts biological processes by binding to a nuclear receptor from the corticosteroid/thyroid receptor superfamily, thereby altering gene expression. Our report outlines the case of a 41-year-old male patient who has received a clinical diagnosis of DD and does not exhibit any other coexisting comorbidities, who developed hypothyroidism posttreatment with acitretin, an unusual and rare side effect of the drug. His baseline routine investigations fell within normal limits before the initiation of acitretin. Acitretin-induced hypothyroidism was treated with thyroxine. Although a good therapeutic response was seen with acitretin, it could not be continued due to the development of side effects and was continued on topical therapy. This case emphasizes the likelihood of adverse effects linked to therapeutic levels of acitretin in patients without any prior history and signifies the critical importance of consistent blood monitoring throughout drug therapy. [ABSTRACT FROM AUTHOR]

This document provides a comprehensive overview of comedones in dermatology, focusing on their formation, association with acne, and other dermatological conditions. It categorizes various skin disorders based on their association with comedones and includes a table summarizing these disorders. The document also discusses other skin disorders occasionally associated with comedones and provides information on dermoscopic features. It concludes with declarations of patient consent, financial support, conflicts of interest, and the non-use of artificial intelligence in manuscript preparation. This compilation of articles and studies is a valuable resource for library patrons conducting research on comedones and related skin conditions. [Extracted from the article]

Darier disease (DD) is an autosomal dominant disorder due to pathogenic variants of the ATP2A2 gene that causes an isolated skin manifestation based on keratinocyte disconnection and apoptosis. Systemic manifestations of DD have not been demonstrated so far, although a high incidence of neuropsychiatric syndromes suggests an involvement of the central nervous system. We report that the pathogenic ATP2A2 gene variant c.118G>A may cause cardiac involvement in patients with DD, consisting of keratinocyte and cardiomyocyte disconnection. Their common pathologic pathway, still unreported, was documented by both skin and left ventricular endomyocardial biopsies because cardiac dilatation and dysfunction appeared several decades after skin manifestations. Keratinocyte disconnection was paralleled by cardiomyocyte separation at the lateral junction. Cardiomyocyte separation was associated with cell disarray, sarcoplasmic reticulum dilatation, and increased myocyte apoptosis. Clinically, hyperkeratotic skin papules are associated with chest pain, severe muscle exhaustion, and ventricular arrhythmias that improved following administration of aminophylline, a phosphodiesterase inhibitor enhancing SERCA2 protein phosphorylation. Cardiac pathologic changes are similar to those documented in the skin, including cardiomyocyte disconnection that promotes precordial pain and cardiac arrhythmias. Phosphodiesterase inhibitors that enhance SERCA2 protein phosphorylation may substantially attenuate the symptoms. [ABSTRACT FROM AUTHOR]

Introduction: Darier disease is a rare inherited disease with dominant skin manifestations including keratotic papules and plaques on sebaceous and flexural areas. Secondary infection of skin lesions is common, and Staphylococcus aureus commonly colonizes these lesions. The aim of the study was to characterize the bacterial microbiome of cutaneous Darier lesions compared to normal-looking skin and disease severity. Methods: All patients with a history of Darier followed up at Emek Medical Center were invited to participate in the study. Patients that did not use antibiotics in the past month and signed informed consent had four skin sites sampled with swabs: scalp, chest, axilla, and palm. All samples were analyzed for bacterial microbiome using 16S rDNA sequencing. Results: Two hundred and eighty microbiome samples obtained from lesional and non-lesional skin of the scalp, chest, axilla, and palm of 42 Darier patients were included in the analysis. The most abundant bacterial genera across all skin sites were Propionibacterium, Corynebacterium, Paracoccus, Micrococcus, and Anaerococcus. Scalp and chest lesions featured a distinct microbiome configuration that was mainly driven by an overabundance of Staphylococci species. Patients with more severe disease exhibited microbiome alterations in the chest, axilla, and palm compared with patients with only mild disease, driven by Peptoniphilus and Moryella genera in scalp and palmar lesions, respectively. Conclusion:Staphylococci were significantly associated with Darier lesions and drove Darier-associated dysbiosis. Severity of the disease was associated with two other bacterial genera. Whether these associations also hold a causative role and may serve as a therapeutic target remains to be determined and requires further investigation. [ABSTRACT FROM AUTHOR]

Darier disease (DD) is a rare monogenetic skin disorder with limited data on its potential association with neurological disorders. This study aimed to investigate the association between DD and neurological disorders, specifically Parkinson's disease, dementias, and epilepsy. Using Swedish national registers in a period spanning between 1977 and 2013, 935 individuals with DD were compared with up to 100 comparison individuals each, randomly selected from the general population based on birth year, sex, and county of residence at the time of the first diagnosis of DD. Individuals with DD had increased risks of being diagnosed with Parkinson's disease (RR 2.1, CI 1.1; 4.4), vascular dementia (RR 2.1, CI 1.0; 4.2), and epilepsy, (RR 2.5, CI 1.8; 3.5). No association of DD with other dementias were detected. This study demonstrates a new association between DD and neurodegenerative disorders and epilepsy, underlining the need for increased awareness, interdisciplinary collaboration, and further research to understand the underlying mechanisms. Early identification and management of neurological complications in DD patients could improve treatment strategies and patient outcomes. The findings also highlight the role of SERCA2 in the pathophysiology of neurological disorders, offering new targets for future research and potentials for novel treatments. [ABSTRACT FROM AUTHOR]

This article discusses two cases of Darier disease, a chronic skin condition characterized by keratotic papules and other symptoms. The patients had previously tried various treatments with limited success. However, they showed significant improvement after being treated with apremilast, a medication approved for other skin conditions. The authors suggest that apremilast may help control inflammation and regulate calcium levels in Darier disease. Further studies are needed to confirm the efficacy of apremilast for this condition. [Extracted from the article]

Claudin-4 is a key component of tight junctions, which play an important role in the formation of the epidermal barrier by forming a circumferential network in the granular layer that serves as a gatekeeper of the paracellular pathway. The aim of this study is to illustrate claudin-4 immunohistochemical staining patterns of different blistering disorders. We collected 35 cases, including two Hailey–Hailey disease, one Darier disease, three Grover disease, one acantholytic acanthoma, two warty dyskeratoma, 11 pemphigus vulgaris (PV) including six mucosal PV, and two pemphigus foliaceus. For comparison, we included five cases of normal skin, five eczema, and three bullous pemphigoid cases. Claudin-4 demonstrated weak-to-moderate expression in keratinocytes located in the stratum granulosum, keratinocytes surrounding hair follicles, and adnexal glands. Further, claudin-4 exhibited moderate-to-strong membranous staining in disrupted keratinocytes surrounding and within the acantholytic and bullous areas in 16/22 of the acantholytic cases (not seen in the six cases of mucosal PV) and all three bullous pemphigoids. This finding suggests that claudin-4 is upregulated in these conditions, which may be a compensatory response to the disrupted barrier function. This finding could shed light on the molecular mechanisms underlying disrupted barrier function in blistering disorders, independent of the specific underlying disease mechanism. [ABSTRACT FROM AUTHOR]

Acrokeratosis paraneoplastica (Basex syndrome) is a rare paraneoplastic condition hallmarked by psoriasiform lesion development on acral surfaces, most often related to an underlying squamous cell carcinoma. Patients may also present with nail plate changes. Successful management of this condition can be accomplished by treating the underlying malignancy. [ABSTRACT FROM AUTHOR]

Background: Hailey–Hailey disease (HHD) remains a difficult‐to‐treat dermatosis and little is known about the patient's perception of the disease activity, the treatment success and its impact on quality‐of‐life (QoL). Objective: To obtain better understanding of HHD patients' needs regarding their medical condition, financial burden, QoL, subjective well‐being and treatment thereof as well as satisfaction to evaluate common treatments' 'real‐life' relevance. Methods: With initiation of the national registry for Darier's disease (DD; Morbus Darier, MD) and Hailey–Hailey disease (HH) MDHHgermany, patients with HHD diagnosis were included starting June 2020. To assess subjective symptoms, patients filled out questionnaires such as the DLQI (dermatological life quality index), numeric rating scale (NRS) for itch, pain and burning sensation, as well as the SWLS (satisfaction with life scale) questionnaire to quantify overall satisfaction in life. Additionally, data on therapies were collected along with the patients' satisfaction of those and their medical care. Furthermore, patients assessed financial aspects and work ability. Results: One hundred and two patients were recruited from dermatology clinics, office‐based dermatologists and self‐help platforms across Germany between June 2020 and February 2023, 90 were eligible and analysed (mean: 49.91 years, 73.33% females, 26.67% males). 39.77% stated according to the DLQI their life is severely/very severely affected. Satisfaction with life was mediocre. Burning sensation was most pronounced among subjective symptoms (NRS 5.85 ± 2.80). Systemic treatments were rated as ineffective according to 56.92%, 25.56% had never received one. Most prescribed systemic treatments were corticosteroids (73.8%), followed by low‐dose naltrexone (LDN) (26.2%), retinoids (15.4%) and antibiotics (13.8%). Satisfaction with medical care was generally low. Conclusion: Our 'real‐life' data state a major disease burden and impact on the QoL for affected individuals, as well as limited disease control due to inadequate therapies. MDHHgermany can provide insights into improvement of healthcare support with this debilitating disease and improve QoL. In the long term, it aims to provide basis for further clinical trials, epidemiological studies and immunological investigations. [ABSTRACT FROM AUTHOR]

Background: A change in a gene called Ca2+-ATPase type 2, which controls the movement of calcium in the endoplasmic reticulum, causes Darier disease. Darier disease is a rare skin condition that affects how cells stick together. Also, this illness gets worse with heat and exposure to the sun, sweating, and rubbing, and it is characterized by many bumpy, greasy spots with an oily skin distribution. Sometimes, it can also harm the mucosa (the lining inside our body) and cause our nails to grow strangely. There is a special type of Darier disease called unilateral segmental Darier disease. It causes red, scaly bumps to appear on one side of the body and they are not related to any other illnesses. Objective: To show an example of a person with Darier's disease. Also, to talks about the main characteristics and the treatments that are available. Subject and methods: A case report. Results: 51 years old male patient presented with multiple red to brown hyperkeratotic papules coalesce into plaque and led to thickened skin affecting the face, trunk, axilla and dorsa of both upper and lower extremities. Histopathology, there was hyperkeratosis, acanthosis, and papillomatosis. Supra basal acantholytic blister containing acantholytic cells, some of them showed Evidence of dyskeratosis. Corps ronds are present in the uppermost layer, especially the granular layer. Grains are present within the horney layer. No signs of malignancy or granuloma. Conclusion: Because there are no confirmed ways to cure DD, it is hard to treat. There are many different ways to treat this problem, like using special creams or medications, having surgery, or using lasers. But these treatments don't work very well and only help a little bit. It is important to ensure a multidisciplinary approach in the management of patients with Darier's disease because systemic retinoids have shown to be more effective in achieving some reduction of symptoms in 90% of patients. Isotretinoin was used in our patient with a good outcome because it reduces hyperkeratosis, smoothens papules, and reduces odour. [ABSTRACT FROM AUTHOR]

Background: Dyschromias are the second most commonly diagnosed dermatological entity in patients with skin of color (SOC). People with SOC develop postinflammatory hyperpigmentation (PIH) with a higher frequency and greater severity attributed to the presence of reactive melanocytes. This can have severe repercussions on self-esteem and social/emotional functioning. While there are studies on the impact of post-acne PIH on quality of life (QOL), the assessment of impact of PIH on QOL as a heterogenous group of dermatoses has not been studied previously. Objectives: The aim of this study was to assess the impact of PIH on QOL in patients with SOC using Skindex-16. Materials and Methods: This was a cross-sectional study conducted from October 2019 to September 2021, involving 60 patients with SOC having biopsy-proven PIH. All patients underwent thorough clinical workup, followed by the administration of the Skindex-16 questionnaire. Data were tabulated and analyzed. Results: The mean age was 32.53±11.73 years: 35 (58%) patients were male, and 25 (42%) were females. Most patients presented with PIH secondary to papulosquamous disorders (n=23; 38.34%), followed by acne/acneiform eruptions (n=11; 18.33%). The mean scores for symptoms, emotions, functioning, and total scores were 0.37±0.51, 2.30±1.13, 2.26 ±1.40, and 1.64±0.85, respectively. PIH lesions with simultaneous evolution were associated with higher symptoms subscale scores. A previous tendency of PIH, involvement of exposed sites, higher intensity of PIH, epidermal PIH, and lesions accentuating on Wood's lamp had higher, statistically significant impact on emotions, functioning, and total scores. Conclusion: PIH had significant impact on Quality of Life in patients of Skin-of-Color. Our study was limited by the sample size, and larger, multicentric, population-based studies are recommended. [ABSTRACT FROM AUTHOR]

Kaposi's varicelliform eruption (KVE) is an infectious skin disease that is mainly caused by herpes simplex virus (HSV), vaccinia virus, or Coxsackie A16 virus in individuals with preexisting skin conditions. It is characterized by widespread vesicopustular eruptions, with the face being the most commonly affected area. Severe cases can lead to systemic symptoms and life-threatening complications. This case report describes a 22-year-old Chinese woman with acne vulgaris who developed KVE after receiving local needle clearing treatment. The patient was successfully treated with antiviral and antibiotic medications. The report highlights the importance of sterile and standardized procedures for acne patients undergoing invasive treatments. [Extracted from the article]

This article discusses a case of mosaic Darier disease in a 50-year-old female who developed a rash on her torso following an allogeneic stem cell transplant for acute myeloid leukemia. The rash initially appeared on the left side of her back and spread to involve her neck and a localized area on her left thigh. The patient had a history of atopic dermatitis and had previously been diagnosed with Grover's disease. However, a review of earlier biopsy slides confirmed the diagnosis of mosaic Darier disease. The patient was successfully treated with topical corticosteroids, and there were no further flares reported after 12 months. Darier disease is an autosomal dominant genodermatosis characterized by hyperkeratotic papules, nail changes, and oral mucosal changes. Mosaic Darier disease can present with areas of diseased skin intermixed with healthy skin, often following the lines of Blaschko. [Extracted from the article]

Darier's disease is an infrequently encountered autosomal dominant condition characterised by complete penetrance but variable expression. It is characterised by abnormal keratinisation and epidermal adhesion deficiency, clinically presenting as greasy keratotic or warty papules and plaques, primarily affecting seborrheic regions and flexures. Additional manifestations include palmar pits, nail abnormalities, cobble-stoning of the oral mucosa, and even neuro-psychiatric issues. In extremely rare cases, mucosal involvement can occur in the oral, laryngeal, Oesophageal, or rectal areas. Familial Darier's disease typically emerges during puberty. Here, the authors present a unique case of 55 years old male patient of Darier's disease with delayed onset, despite a significant family history of the condition. The clinico-pathological aspects, highlighting the presence of palmo-plantar keratoderma are also discussed. Treatment included the application of topical hydrocortisone 1% cream twice daily for two weeks, then once daily for two weeks along with dexpanthenol once daily for eight weeks. [ABSTRACT FROM AUTHOR]

Abstract Introduction Hailey-Hailey disease (HHD) and Darier disease (DD) are rare genetic disorders for which differential diagnosis, especially in less obvious cases, can be difficult. The diagnosis is based on the clinical picture and family history, and is confirmed by histopathologic examination. Dermoscopy is a noninvasive technique that is primarily used at the present time to diagnose skin cancers. However, in the past few years this technique has also been increasingly used as a noninvasive diagnostic tool of inflammatory skin diseases. The aim of the study was to evaluate whether dermoscopy is a useful noninvasive diagnostic tool for HHD and DD. Methods We performed an observational retrospective case series study involving 13 patients with HHD (n = 8) and DD (n = 5). The presence or absence of standardized dermoscopic features of inflammatory diseases (according to International Dermoscopy Society [IDS] guidelines) was assessed in these patients. Results The most distinctive feature of HHD was white clouds separated by pink furrows, visible in all cases (8/8; 100.0%). Another distinctive clue of HHD was the crumbled fabric pattern seen in six patients with HHD (6/8; 75.0%). These dermoscopic findings were not present in patients with DD. The most typical features of DD in the dermoscopic examination was star-like or oval-shaped yellow areas surrounded by whitish halo, visible in all patients (5/5; 100.0%). Another distinctive dermoscopic clue of DD was pinkish homogeneous structureless background, which was present in all patients (5/5, 100.0%). These latter two features were not observed in patients with HHD. Conclusion Dermoscopy reveals distinctive features of HHD and DD, respectively. Therefore, we conclude that dermoscopy can be an excellent complementary noninvasive tool in the diagnostic process of patients with HHD and DD.

Introduction: Hailey-Hailey disease (HHD) and Darier disease (DD) are rare genetic disorders for which differential diagnosis, especially in less obvious cases, can be difficult. The diagnosis is based on the clinical picture and family history, and is confirmed by histopathologic examination. Dermoscopy is a noninvasive technique that is primarily used at the present time to diagnose skin cancers. However, in the past few years this technique has also been increasingly used as a noninvasive diagnostic tool of inflammatory skin diseases. The aim of the study was to evaluate whether dermoscopy is a useful noninvasive diagnostic tool for HHD and DD. Methods: We performed an observational retrospective case series study involving 13 patients with HHD (n = 8) and DD (n = 5). The presence or absence of standardized dermoscopic features of inflammatory diseases (according to International Dermoscopy Society [IDS] guidelines) was assessed in these patients. Results: The most distinctive feature of HHD was white clouds separated by pink furrows, visible in all cases (8/8; 100.0%). Another distinctive clue of HHD was the crumbled fabric pattern seen in six patients with HHD (6/8; 75.0%). These dermoscopic findings were not present in patients with DD. The most typical features of DD in the dermoscopic examination was star-like or oval-shaped yellow areas surrounded by whitish halo, visible in all patients (5/5; 100.0%). Another distinctive dermoscopic clue of DD was pinkish homogeneous structureless background, which was present in all patients (5/5, 100.0%). These latter two features were not observed in patients with HHD. Conclusion: Dermoscopy reveals distinctive features of HHD and DD, respectively. Therefore, we conclude that dermoscopy can be an excellent complementary noninvasive tool in the diagnostic process of patients with HHD and DD. Plain Language Summary: Hailey-Hailey disease and Darier disease are rare genetic disorders, which are diagnosed based on the clinical picture and confirmed with skin biopsy. Dermoscopy is noninvasive diagnostic tool, which enables skin visualization at a 10-fold magnification. Currently, dermoscopy is mainly used to diagnose skin cancers. In the recent years, dermoscopy has been also increasingly used as a noninvasive diagnostic tool of inflammatory skin diseases. The aim of the study was to assess whether demoscopy may be a useful tool in diagnosing Hailey-Hailey disease and Darier disease. The study included thirteen patients: eight with Hailey-Hailey disease and five with Darier disease. The most typical dermoscopic feature of Hailey-Hailey disease was white clouds separated by pink furrows, which were visible in all cases. Another distinctive clue was crumbled fabric pattern seen in 75.0% of patients with Hailey-Hailey disease. These dermoscopic findings were not present in patients with Darier disease. In dermoscopic examination the most typical feature of Darier disease was star-like or oval-shaped yellow areas surrounded by whitish halo, visible in all patients. Also, pinkish homogeneous structureless background was present in all patients with Darier disease. These features were not observed in patients with Hailey-Hailey disease. Dermoscopy reveals characteristic features of Hailey-Hailey disease and Darier disease. Therefore, it can be an excellent complementary tool in the diagnostic process of patients with those diseases. [ABSTRACT FROM AUTHOR]

Darier disease is an autosomal dominant blistering disorder linked to mutation of the endoplasmic reticulum calcium pump, SERCA2, which compromises keratinocyte adhesion and differentiation. Beyond the typical keratotic and eroded skin lesions, patients with Darier disease often present with psychiatric co-morbidities. Herein, we present a biopsy-confirmed case of Darier disease in a patient with bipolar disorder, whose cutaneous disease dramatically worsened upon initiation of lithium therapy. In consultation with the patient's psychiatrist, lithium was tapered, leading to rapid improvement in her skin. This case highlights the potential for lithium to complicate management of Darier disease and underscores the need for dermatologists to collaborate with psychiatrists to optimize both cutaneous and mental health in patients. [ABSTRACT FROM AUTHOR]

This article examines the role of dermatologists in emergency rooms (ERs) in public hospitals, specifically in large cities. The study focuses on data from patients who visited the dermatology department of a public hospital in Serbia. The findings reveal that bacterial infections, parasitic infections, acne, fungal infections, and other skin conditions were the most common diagnoses. The study emphasizes the importance of having dermatologists available in ERs to ensure prompt and accurate diagnosis and treatment of potentially serious skin diseases. [Extracted from the article]

The article discusses a case of generalized hyperpigmented and hypopigmented macules and papules in a 49-year-old woman. The patient had these skin lesions since her twenties and mentioned that her family members also had similar lesions. The physical examination revealed oval hyperpigmented macules and papules, some with a hyperkeratotic surface, along with hypopigmented macules. Histopathological examination showed characteristic features of Dowling-Degos disease (DDD), a rare genodermatosis. The article provides information on the clinical presentation, histological findings, genetic analysis, and differential diagnosis of DDD. Treatment options for DDD are also discussed. [Extracted from the article]

The article focuses on a case report of keratosis follicularis squamosa (KFS) with a rare unilateral distribution, highlighting its clinical presentation and histopathological features. It reviews nine KFS cases reported in China, discussing the diagnostic criteria, treatment options, and proposing the possibility of a new clinical subtype of KFS based on the unilateral manifestation.

Darier disease is caused by heterozygous loss of function variants in the ATP2A2 gene encoding the endoplasmic/sarcoplasmic reticulum Ca2+ pump ATP2A2. Defective intracellular calcium signaling in the epidermis results in a loss of desmosomal adhesion and the development of characteristic skin lesions. In this study, we investigated a Shih Tzu that developed erythematous papules on the ventrum and, over time, the dorsal neck and a nodule in the right ear canal with secondary ear infection. Histopathologic examination demonstrated discrete foci of acantholysis affecting suprabasal layers of the epidermis. Whole genome sequencing of the affected dog identified a heterozygous missense variant, p.N809H, affecting an evolutionarily conserved amino acid residue of the ATP2A2 protein. The highly characteristic clinical and histopathologic findings together with a plausible variant in the only known functional candidate gene establish the diagnosis of canine Darier disease in the studied dog and highlight the potential of genetic analyses as complementary diagnostic approach in veterinary medicine. [ABSTRACT FROM AUTHOR]

Background: Darier's disease (DD) is a genodermatosis caused by mutations of the ATP2A2 gene leading to disrupted keratinocyte adhesion. Recurrent episodes of skin inflammation and infections with a typical malodour in DD indicate a role for microbial dysbiosis. Here, for the first time, we investigated the DD skin microbiome using a metabarcoding approach of 115 skin swabs from 14 patients and 14 healthy volunteers. Furthermore, we analyzed its changes in the context of DD malodour and the cutaneous DD transcriptome. Results: We identified a disease-specific cutaneous microbiome with a loss of microbial diversity and of potentially beneficial commensals. Expansion of inflammation-associated microbes such as Staphylococcus aureus and Staphylococcus warneri strongly correlated with disease severity. DD dysbiosis was further characterized by abundant species belonging to Corynebacteria, Staphylococci and Streptococci groups displaying strong associations with malodour intensity. Transcriptome analyses showed marked upregulation of epidermal repair, inflammatory and immune defence pathways reflecting epithelial and immune response mechanisms to DD dysbiotic microbiome. In contrast, barrier genes including claudin-4 and cadherin-4 were downregulated. Conclusions: These findings allow a better understanding of Darier exacerbations, highlighting the role of cutaneous dysbiosis in DD inflammation and associated malodour. Our data also suggest potential biomarkers and targets of intervention for DD. EhK5eJ71-7TH2Y6eFWuNwd Video Abstract [ABSTRACT FROM AUTHOR]

The article focuses on the medical standards for entrance into the US military and the disqualifying dermatologic conditions. Topics include the purpose of medical standards in the military, the prevalence of dermatologic diseases in military history, and the detailed list of disqualifying skin and soft tissue conditions provided by the United States Department of Defense.

Darier disease is one of the most common genodermatoses. Although Darier disease was described in 1886, targeted therapies remain unknown. Current literature lacks specific guidelines for treatment of Darier disease. Treatment remains symptomatic and may be challenging for dermatologists. The aim of this article is to present clinical characteristics and treatment options. In a mild form of the disease with a small number of skin lesions, the symptoms can be reduced by the use of topical medications. Oral retinoids, alternatively doxycycline, seem to be beneficial in extensive and persistent lesions unresponsive to local treatment. In limited, hypertrophic forms, surgical methods, laser therapy and photodynamic therapy could be used. [ABSTRACT FROM AUTHOR]

Darier disease is one of the most common genodermatoses. Although Darier disease was described in 1886, targeted therapies remain unknown. Current literature lacks specific guidelines for treatment of Darier disease. Treatment remains symptomatic and may be challenging for dermatologists. The aim of this article is to present clinical characteristics and treatment options. In a mild form of the disease with a small number of skin lesions, the symptoms can be reduced by the use of topical medications. Oral retinoids, alternatively doxycycline, seem to be beneficial in extensive and persistent lesions unresponsive to local treatment. In limited, hypertrophic forms, surgical methods, laser therapy and photodynamic therapy could be used.

The article offers information on the Inclusive Dermatology Atlas, an open, online repository featuring comprehensive images of skin conditions from patients of diverse skin types, aiming to address disparities in diagnostic accuracy and adverse health outcomes for patients of color. Topics include the lack of diversity in medical education materials, the importance of representing diverse patient populations, and the potential impact on equity in dermatologic education and patient care.

Acknowledgments Consent for publication of all patient photographs and medical information was obtained from the patient prior to article submission. Darier's disease (DD) is a rare, multi-organ systemic condition resulting from an autosomal dominant inherited mutation in the ATP2A2 gene which encodes sarco-endoplasmic reticular (ER) calcium-ATPase type 2 (SERCA2).[1] Mutations in ATP2A2 lead to calcium dyshomeostasis and ER stress, resulting in dysfunctional folding of junctional proteins such as desmoplakin and desmogleins.[1] DD has both cutaneous manifestations and associated cardiac, neurologic, and psychiatric manifestations.[[2]] Cutaneous lesions are characterized as malodorous, greasy, pruritic hyperkeratotic papules on the seborrheic areas of the chest, upper back, forehead, scalp, nasolabial folds, and ears. Mainstay treatments have included topical retinoids such as topical tazarotene and oral retinoids such as isotretinoin, acitretin, and alitretinoin.[1] Patients are also highly encouraged to seek genetic counseling. [Extracted from the article]

The article presents a case study of a 52-year-old man with a sudden eruption of facial pustules during hospitalization for septic shock, revealing a diagnosis of eczema herpeticum. Topics discussed include the patient's medical history, differential diagnosis considerations, and the clinical presentation, diagnosis, and management of eczema herpeticum.

The article focuses on diagnosing a skin condition in a 37-year-old woman who presented with hyperkeratotic small papules in the axillae and groin, along with reticulated hyperpigmentation. It mentions the best diagnosis for this condition is Galli-Galli disease, a rare autosomal-dominant genodermatosis characterized by reticulated papules primarily found in flexural regions.

Acrokeratosis verruciformis of Hopf (AVH) is a rare genodermatosis with an autosomal dominant mode of inheritance. It is a disorder of keratinization characterized by multiple flat-topped skin-colored or fleshy, dull-red to brown keratotic lesions resembling plane warts mainly observed on the dorsum of the hands and feet. Herein, we present a case of AVH who presented with hypopigmented and hyperpigmented macules with papular lesions and was diagnosed on histopathology. [ABSTRACT FROM AUTHOR]

A provisional diagnosis of urticaria pigmentosa was revised to lichen planus pigmentosus with dermatographism, after histopathologic examination of specimen from hyperpigmented patch. It is important to keep differential diagnosis of inducible wheals while making a diagnosis. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 66-year-old man, diagnosing with a skin condition, presented with pruritus in the gluteal cleft and perianal region. Topics include the differential diagnosis of this condition, the histological features observed in the biopsy, and the clinical and histopathologic characteristics that distinguish it from other skin diseases with similar features.

Isotretinoin is a synthetic retinoid derived from retinol. Systemic isotretinoin has been used for years in the treatment of severe acne vulgaris. Isotretinoin is the only drug that acts alone on the 4 etiopathogenic factors of acne vulgaris. In addition, systemic isotretinoin can be used in many dermatological diseases other than acne vulgaris with its immunomodulatory, anti-inflammatory, antitumor, anti-angiogenic effects. It acts on T and B lymphocytes with its immunomodulatory effect, on polymorphonuclear leukocytes with its anti-inflammatory effect, on gene expression with its anti-tumor effect and on endothelial cells and keratinocytes with its anti-angiogenic effect. The use of systemic isotretinoin in dermatological diseases other than acne has been increasing in recent years. The main uses of isotretinoin other than acne; inflammatory dermatoses (rosacea, psoriasis, hidradenitis suppurativa, pityriasis rubra pilaris), infectious diseases (flat warts, condyloma acuminata), sebaceous gland pathologies (seborrhea, seborrheic dermatitis, sebaceous hyperplasia, sebaceous adenoma), cicatricial alopecias (dissecting cellulitis, folliculitis decalvans, frontal fibrosing alopecia), non-melanoma skin cancers (actinic keratosis, squamous cell carcinoma, basal cell carcinoma, cutaneous Tcell lymphoma, xeroderma pigmentosum, Gorlin Goltz syndrome, epidermodysplasia verrusiformis), cosmetic dermatology (photoaging, after rhinoplasty operation) and keratinization disorders (ichthyoses, erythrokeratodermas, palmoplantar keratodermas, Darier’s disease, Hailey-Hailey disease). Apart from these, there are case reports and series indicating that isotretinoin is beneficial in many dermatological diseases. However, more studies are needed to clarify exactly how and when isotretinoin can be used in most of these dermatological conditions. [ABSTRACT FROM AUTHOR]

There is a high therapeutic need in acantholytic and blistering genodermatoses. Cutaneous inflammation is a reasonable therapeutic target, although the patterns are not yet fully elucidated. Here we investigated by immunohistochemistry whether interleukin (IL)-17A is expressed in the inflammatory infiltrate in 34 patients with Hailey–Hailey disease, Darier disease, and junctional and dystrophic epidermolysis bullosa. There was a 5–7-fold increase in the number of IL-17A-positive cells in all patients' samples as compared with normal skin. IL-17A cells were present in epidermal acantholytic areas and dermal inflammatory infiltrates in Hailey–Hailey and Darier disease. In epidermolysis bullosa samples, positive cells were present at the dermoepidermal junction zone. The IL-17A inflammatory pattern was validated by observing upregulation of downstream genes/proteins, S100A7, S100A8 and S100A9 (S100 calcium-binding proteins). These results suggest that IL-17A contributes to skin inflammation and could be a therapeutic target during inflammatory flares in these disorders. [ABSTRACT FROM AUTHOR]

This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80–82 and Q84 from 2001 to 2020. The local cohort included 298 patients with 36 unique genodermatosis diagnoses. Verification of these diagnoses in the NPR showed positive predictive values of over 90%. The NPR search yielded 13,318 patients with 73 unique diagnoses, including ichthyoses (n=3,341; 25%), porokeratosis (n=2,277; 17%), palmoplantar keratodermas (n=1,754; 13%), the epidermolysis bullosa group (n=1011; 7%); Darier disease (n=770; 6%), HaileyHailey disease (n=477; 4%) and Gorlin syndrome (n=402; 3%). The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort and are reported. A total of 149,538 outpatient visits were registered, a mean of 4.6 visits per patient. This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses. [ABSTRACT FROM AUTHOR]

The appearance of widely diffuse hypopigmented keratotic lesions has been linked to a number of dermatological conditions like pityriasis versicolor, stucco keratoses, confetti leukoderma, and guttate leukoderma of Darier’s disease. Specific clinical and histologic characteristics distinguish them from one another. One of the differentials for diffuse hypopigmented keratotic lesions has been a novel entity called disseminated hypopigmented keratoses (DHK). We are hereby highlighting the importance of bedside investigations like potassium hydroxide wet mount and dermatoscopy in ruling out such misleading dermatological conditions. It looks to be benign and slowly progressing, albeit not linked to any systemic symptoms. We hereby present a case of diffuse hypopigmented keratoses with no proven underlying cause. [ABSTRACT FROM AUTHOR]

Warty dyskeratoma is considered a benign tumor lesion, uncommon, generally solitary, although cases of multiple lesions have been reported. It is described as a slow growing papule or nodule of around 5 mm in diameter that can reach up to 1-2 cm in middle-aged people (1). It develops in photo-exposed areas, predominantly the head and neck, but there are cases reported in the oral mucosa and genital area (2). A case involving a Warty dyskeratoma in the face region is presented below. [ABSTRACT FROM AUTHOR]

Introduction/Background: Acitretin is a second-generation systemic retinoid. Its clinical applications are virtually exclusively limited to dermatology. It has anti-inflammatory, antiproliferative, and antikeratinizing effects. However, there is a lack of articles summarizing the relevant literature in a systemic way. Methods: A PubMed search was performed using keywords such as "retinoids," "acitretin," "etretinate," and "retinoid embryopathy" to identify relevant original articles, case series, and case reports. Results: The most commonly used application of acitretin, a second-generation systemic retinoid is in the treatment of psoriasis. It has been used in various other dermatological disorders (keratoderma, ichthyosis, pityriasis rubra pilaris, and lichen planus) as a stand-alone therapy or may be combined with other topical and systemic agents. As the drug is not an immunosuppressive agent, hence can be given safely to patients suffering from human immunodeficiency virus and taking highly active antiretroviral therapy. The drug can be given safely in the pediatric as well as the adult population. Although adverse effects are common usually minor and self-limiting and can be managed easily without stopping the drug. The main side effects of the drug include teratogenicity, hepatotoxicity, and hyperlipidemia which should be monitored regularly. It should be avoided or used cautiously in patients taking methotrexate, cyclosporine, and corticosteroids. Conclusions: This article has discussed various uses of acitretin in dermatology, its side effect profile, indication, contraindication, and drug interactions. The drug can be administered safely and successfully with the right patient selection, progressive dose increase, careful monitoring, and appropriate patient counseling. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 20-year-old woman with more than three-month history of a scaly, erythematous rash to the groin. Topics include granular parakeratosis being benign but distinct and distressing condition typically affecting intertriginous areas such as the axillae, groin or breast fold; and granular parakeratosis affecting people of all ages and having no geographical or racial predilection.

For disorders of keratinization, topical treatment alone may be ineffective, and systemic retinoid therapy may be indicated. Treatment with systemic retinoids (acitretin, isotretinoin and alitretinoin) has been shown to be effective in reducing disease severity; however, potentially rare adverse effects (AEs) may occur, including hyperostotic skeletal changes. The true prevalence of this AE in adult patients administered life‐long therapy is unknown. We identified 3 of 127 (2.4%) patients (with ichthyosis or Darier disease) who had been prescribed isotretinoin with or without acitretin, and who developed radiological signs and clinical symptoms of hyperostosis and ligamentous ossification. This clinical review highlights the significance of retinoid‐induced skeletal hyperostosis in patients prescribed long‐term, high‐dose retinoid therapy for disorders of keratinization. Patients commencing systemic retinoid therapy, particularly women of childbearing age, should be counselled about this important and potentially serious AE, especially if long‐term treatment is indicated. [ABSTRACT FROM AUTHOR]

Darier's disease is an uncommon genetic disorder that causes dermatological manifestations such as crusted papules at seborrhoeic sites of the head, neck and trunk. Acantholysis and dyskeratosis are the characteristic histopathological picture. Darier's disease is a genetically inherited disease that occurs with haploinsufficiency. Chronic otitis externa along with recurrent dermatological lesions should be investigated to rule out Darier's disease, which will be helpful to provide appropriate treatment. We report the occurrence of Darier's disease manifesting severe otitis externa in a 62-year-old male patient who presented with recurrent bilateral otitis externa with scaly and greasy lesions on the external auditory canal and pinna and was diagnosed to have bilateral otitis externa. At the age of 30 years, he was diagnosed with Darier's disease on the basis of skin biopsy. This recurrent otitis externa with Darier's disease should be known to the clinician for early diagnosis and prompt treatment. [ABSTRACT FROM AUTHOR]