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Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy‐confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk. [ABSTRACT FROM AUTHOR]

Epidermolytic ichthyosis is characterized by erythema and blistering at birth. We present a neonate with epidermolytic ichthyosis who had a subtle change in clinical findings while hospitalized, including increased fussiness, erythema, and a change in her skin odor, which represented superimposed staphylococcal scalded skin syndrome. This case highlights the unique challenge of recognizing cutaneous infections in neonates with blistering skin disorders and emphasizes the importance of having a high suspicion for superinfection in this population.

The article discusses a case of epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation in a 17-year-old male. The patient presented with verrucous skin lesions over the foreskin, shaft, scrotum, and perineum, with histopathologic features consistent with epidermolytic hyperkeratosis. The mutation was found to be somatic and not present in the germline DNA, indicating a de novo occurrence. The article highlights the importance of genetic testing in cases of epidermal nevi with features of epidermolytic hyperkeratosis for accurate diagnosis and counseling on potential transmission risks. [Extracted from the article]

Epidermolytic acanthomas (EA) are rare benign tumors of unclear etiology that present as flat, sometimes slightly keratotic, pale or whitish papules that are usually asymptomatic. Not uncommonly, their clinical appearance in the anogenital area might lead to misdiagnosis as other lesions that commonly develop at this site, such as condylomata acuminata. Though mainly asymptomatic, there are also reports of EA presenting with persistent genital pruritus. We describe the first reported case of pruritic scrotal EA successfully treated with topical pimecrolimus.

Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis.

Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ichthyoses (KI) in clinical practice. We report an intriguing case of KI presenting as generalized ichthyosis in a reticulate pattern surrounding islands of normal skin, epidermolytic hyperkeratosis and binucleate cells on histopathology, and heterozygous mutation in KRT10. Through this case, we would like to demonstrate the importance of genetic studies and genotype-phenotype correlation in diagnosing such challenging cases.

Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split. Clinically, peeling skin syndrome and epidermolytic ichthyosis can mimic SEI. Therefore, a skin biopsy is essential to diagnose this rare genetic condition. Here, we are reporting a rare case of SEI in neonates presented with peeling of the skin.

Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report a 39-year-old woman with EI, who presented with generalized erythroderma since birth, followed by generalized hyperkeratosis later in life. The physical examination revealed generalized hyperkeratosis without blistering or erosion. The histopathological studies revealed hyperkeratosis with parakeratosis and psoriasiform hyperplasia, without significant epidermolysis. The Sanger sequencing revealed a missense mutation—c.467G>A (p.Arg156His)—in the KRT10 gene, confirming the diagnosis of EI. The genotype-phenotype correlations in EI patients are multifactorial. Thus, molecular analysis can confirm the diagnosis in cases of an unclear medical history or histological inconclusiveness.

Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional therapeutic optionfor acute pseudoainhum, and report the success ofsubsequent full thickness skin graft, suggesting thebenefit of this procedure as a therapeutic alternativefor patients with pseudoainhum.

Nevus comedonicus (NC) is a rare developmental anomaly of the folliculosebaceous apparatus, which appears as numerous dilated papules containing firm, darkly pigmented, horny plugs. It appears shortly after birth and mostly before the age of 10; however, late-onset cases have been reported. There is no gender or racial predilection. Moreover, NC can be a component of nevus comedonicus syndrome, a neurocutaneous disorder with skeletal, ocular, and central nervous system abnormalities. EHK properties in NC are not a common finding and are rarely seen in association with each other. This paper reports a healthy, 27-year-old young woman who has been developing numbers of asymptomatic unilateral linear skin lesions on her chest, waist, right thigh, and popliteal fossa in a unilateral linear pattern over ten years. Skin biopsy revealed dilated follicular ostia with orthokeratotic hyperkeratosis, columns of parakeratosis, cornoid flagellation, epidermolytic hyperkeratosis, and mild acanthosis on its wall. [ABSTRACT FROM AUTHOR]

Abstract EN is a hamartomatous proliferation of keratinocytes. The most common dermoscopic feature of EN is large brown circles in the absence of pigment network which is similar in different histopathological variants including epidermolytic hyperkeratotic.

Introduction: Mutations in the KRT1 gene encoding keratin 1 cause epidermolytic hyperkeratosis characterized by blistering in the neonatal period followed by ichthyotic hyperkeratosis in childhood and adolescent life. We observed a spectrum of clinical manifestations of blistering disorders caused by different mutations in the same KRT1 gene. Aim: To analyse the phenotypic spectrum of blistering disorders caused by the KRT1 mutations. Material and methods: Four patients with an epidermal barrier defect manifesting as blistering with the KRT1 mutations were included to the study. The clinical course of the disease was analysed, histology, immunofluorescence and electron microscopic examinations were performed. Results: An adult patient with severe ichthyosis with p.Asn188Lys mutation in exon 1 of KRT1 who occasionally develops blisters in adolescence represents epidermolytic hyperkeratosis, a newborn child who died 4 days after birth due to disruption of the epidermal barrier (extensive blister and erosions) with mutation p.Ser193Pro in the KTR1 gene and two adult sisters harbouring heterozygous mutation c.591+1A>G in the KRT1 gene who present superficial blisters induced by mild trauma from the birth up to adolescent life without ichthyosis suggesting the diagnosis of epidermolysis bullosa simplex. Histopathology in all adult patients showed cytoplasm disruption in keratinocytes of the stratum spinosum with keratohyalin granule-like structures and, on the ultrastructural level, the presence of keratin clumping confirming the pathology of keratin intermediate filaments. Conclusions: This study extends the knowledge of the clinical spectrum for the KRT1 gene mutations. This is the first description of familial dominant epidermolysis bullosa simplex linked to the KRT1 mutation. [ABSTRACT FROM AUTHOR]

Epidermolytic ichthyosis (or epidermolytic hyperkeratosis) classically presents with erythroderma and increased fragility (blistering) at birth or soon thereafter. In later life, erythroderma and blistering improve gradually and the clinical picture is dominated by hyperkeratotic plaques in flexures and around joints. Linear epidermolytic hyperkeratosis is a unique, uncommon clinical variant and the absence of erythroderma and blistering are its hallmark. Linear lesions may be localized or generalized andunilateral or bilateral. Herein we report a 6-year-old girl with unilateral epidermolytic ichthyosis.

Abstract Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.

Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein. To the best of our knowledge, this is the first such case report from India.

Denice Peter Rout,* Anushka Nair,* Anand Gupta, Piyush KumarAmity Institute of Biotechnology, Amity University Mumbai, Navi Mumbai, India*These authors contributed equally to this workAbstract: Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder which has been observed to affect 1 in over 200,000 infants as a consequence of a significant mutation in the genes responsible for the keratin proteins, mostly keratin 1 and 10. The features present at birth include erythema and blistering. In adults, the hallmarks include hyperkeratosis, erosions, and blisters. The major symptoms including xerosis, pruritus, and painful fissuring lead not only to cosmetic problems but also stress, inferiority complex and other psychological conditions. While clinical inspection followed by confirmatory tests including histopathology and electron microscopic assessment is used for diagnosis, treatment modalities can be further improved for better diagnosis. This article reviews subtypes of ichthyosis, with a focus on EHK, genetics behind the disease, recently reported mutations, the existing diagnostics and treatments for the same and potential of new modalities in diagnosis/treatment.Keywords: epidermolytic hyperkeratosis, ichthyosis, skin, skin disorder

EN is a hamartomatous proliferation of keratinocytes. The most common dermoscopic feature of EN is large brown circles in the absence of pigment network which is similar in different histopathological variants including epidermolytic hyperkeratotic. [ABSTRACT FROM AUTHOR]

Epidermolytic acanthoma (EA) is a benign cutaneous condition. It is characterized by warty or flat-topped, keratotic papules that show epidermolytic hyperkeratosis in histology. EA has been described to occur in various locations, namely the trunk, face, and genitoscrotal area. However, it has not been previously reported to involve the palmar area. To the best of our knowledge, we present the first reported case of EA involving the palms and fingers.

BACKGROUND: Epidermolytic hyperkeratosis is a minor tissue reaction pattern that is considered the product of an anomaly in epidermal maturation and is characterized by compact hyperkeratosis, accompanied by granular and vacuolar degeneration of the cells of the spiny and granular layers. It can be a congenital or acquired defect. This pattern of tissue reaction can be found in various conditions. OBJECTIVE: To determine in which disease it is more frequent to find the pattern of epidermolytic hyperkeratosis. MATERIAL AND METHOD: A retrospective study of the archive of the Dermatopathology laboratory in the period 1969 to 2017 (48 years). Biopsies with histological diagnosis of epidermolytic hyperkeratosis were included. Data were analyzed with descriptive statistics. RESULTS: Fifty biopsies were studied, in which slight predominance was observed in women (26), in schoolchildren (14), followed by preschoolers (8). The predominant topography was disseminated (76%), wart neoformations were found morphologically (70%); 79% were asymptomatic. Among the final diagnoses, the warty nevus was first followed by congenital bullous ichthyosiform erythroderma; the clinical-pathological correlation was 78% of the cases studied. CONCLUSIONS: Epidermolytic hyperkeratosis is a rare tissue reaction pattern, it should not be considered synonymous of congenital bullous ichthyosiform erythroderma, frequent in pediatric age and may or may not be related to a skin disease. [ABSTRACT FROM AUTHOR]

Background: Hypergranulotic dyscornification (HD) is a rarely reported histological reaction pattern that may be observed in solitary benign keratoses. Objective and Methods: We retrospectively reviewed all cases described as displaying "hypergranulotic dyscornification" at our institution between January 1st 1990 to September 1st 2018. We excluded cases that on retrospective review displayed changes of epidermolytic hyperkeratosis. We conducted electron microscopy (EM) of two lesions. Results: Thirty cases were identified in our search. Eleven patients were men and 19 were women. Their mean age was 56.9 ± 21.2 years. In contrast to previous reports, we found that HD does not spare the head and neck area. Frequent clinical impressions were inflamed seborrheic keratosis, Bowen disease or inflamed verruca. The most distinctive histopathologic finding was the presence of a prominent granular layer with clumped perinuclear keratohyaline granules. Some cases had mounds of rounded, anucleate glassy eosinophilic corneocytes in the stratum corneum. We observed one case of incidental HD occurring in an epidermoid cyst. EM of HD showed dense perinuclear bands which appeared to match areas of positive staining by keratin immunohistochemistry, without evidence of pale cytoplasmic areas devoid of keratin filaments, characteristic of epidermolytic hyperkeratosis. Conclusion: HD is a reproducible finding in some benign keratoses, probably because of abnormal keratinization. Awareness of this unique reaction pattern will help prevent misdiagnosis. [ABSTRACT FROM AUTHOR]

BACKGROUND Epidermolytic acanthoma (EA) is a rare, benign acquired cutaneous keratosis displaying epidermolytic hyperkeratosis in more than 50% of its surface. Because of the sparsity of comprehensive studies, little is known on the patient demographics and clinical characteristics of this uncommon entity. We wish to comprehensively characterize the clinical and demographic features of EA and to differentiate it from its mimickers. METHODS: We carried out a retrospective review of 131 cases of EA, recorded clinical and histopathologic features and performed linear regression of yearly incidence rates to assess for possible under‐reporting of this entity. RESULTS: EA affected both genders equally. We found 9.08 cases per 100 000 biopsy specimens per year and linear regression analysis showed significantly decreasing incidence rates. Analysis of the anatomical site distribution of EA lesions showed a more frequent genital location in men (39.1% of cases in men, as compared to 11.3% for women). Contrary to previous studies, lesions were most frequently single (91.7%) and the mean age of presentation was 57.8 years. CONCLUSION: The presented largest case series to‐date indicates that EA is probably an underdiagnosed entity and establishes the demographic and clinical features of EA. [ABSTRACT FROM AUTHOR]

Epidermolytic hyperkeratosis (EHK), earlier termed as bullous congenital ichthyosiform erythroderma is a skin disorder characterized as an autosomal dominant and rare disorder which has been observed to affect 1 in over 200,000 infants as a consequence of a significant mutation in the genes responsible for the keratin proteins, mostly keratin 1 and 10. The features present at birth include erythema and blistering. In adults, the hallmarks include hyperkeratosis, erosions, and blisters. The major symptoms including xerosis, pruritus, and painful fissuring lead not only to cosmetic problems but also stress, inferiority complex and other psychological conditions. While clinical inspection followed by confirmatory tests including histopathology and electron microscopic assessment is used for diagnosis, treatment modalities can be further improved for better diagnosis. This article reviews subtypes of ichthyosis, with a focus on EHK, genetics behind the disease, recently reported mutations, the existing diagnostics and treatments for the same and potential of new modalities in diagnosis/treatment. [ABSTRACT FROM AUTHOR]

Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene. [ABSTRACT FROM AUTHOR]

Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein. To the best of our knowledge, this is the first such case report from India. [ABSTRACT FROM AUTHOR]

Changes in the epidermis serve as important histopathological clues to the diagnosis of skin disorders. These peculiar changes are referred to as epidermal reaction patterns. Certain epidermal reaction patterns such as acantholytic dyskeratosis, epidermolytic hyperkeratosis, cornoid lamellae and papillomatosis point towards a specific diagnosis and hence it is important to recognise them. In this article, we have reviewed the histopathological appearance of these reaction patterns as well as their etiology and the conditions in which they are seen.

Background Epidermolytic acanthoma ( EA) is an uncommon benign cutaneous lesion. Multiple epidermolytic acanthomas (multiple EAs) are rarely reported. Methods We retrospectively identified patients diagnosed with multiple EAs between 2005 and 2017 from our dermatopathology database and analyzed their clinical, pathological, and immunohistochemical features. We also evaluated the association of multiple EAs with human papillomavirus (HPV) infection. Results In total, eight patients (average age 51 years; 3 : 1 male predominance) with multiple EAs were found. All patients had lesions on the genitocrural area. The two most common clinical diagnoses were condyloma (5/8) and soft fibroma (3/8), which were predominantly skin-colored (5/8) or whitish (2/8). The lesions were less than 1 cm in diameter, and most (6/8) appeared to have a smooth surface. No molecular evidence suggesting HPV infection was found. Immunohistochemical staining showed low mitotic activity. The lesions were removed in one of two patients via cryotherapy, and one patient was treated with electrocauterization. The other five patients were followed without treatment. Conclusion The genital area was the most common location for multiple EAs, which was commonly misdiagnosed clinically as condyloma. Patients presenting with uniformly small-sized, skin-colored to whitish, smooth papular lesions in the genitalia should be carefully evaluated. The specific pathological features of epidermolytic hyperkeratosis are diagnostic, and the lesions can be observed without aggressive treatment after confirmed diagnosis. [ABSTRACT FROM AUTHOR]

Epidermolytic acanthoma (EA) is a benign cutaneous condition. It is characterized by warty or flat-topped, keratotic papules that show epidermolytic hyperkeratosis in histology. EA has been described to occur in various locations, namely the trunk, face, and genitoscrotal area. However, it has not been previously reported to involve the palmar area. To the best of our knowledge, we present the first reported case of EA involving the palms and fingers. [ABSTRACT FROM AUTHOR]

Epidermolytic hyperkeratosis (EHK) is a rare skin condition characterized by erythroderma and blistering at birth, leading to generalized hyperkeratosis of varying severity in adulthood. EHK is frequently mistaken for staphylococcal scalded skin syndrome (SSSS) or epidermolysis bullosa. EHK is usually inherited in an autosomal dominant fashion, but very rare autosomal recessive families have been reported. Molecular genetic testing in this patient identified a novel homozygous keratin-10 gene (KRT10) mutation consistent with autosomal recessive inheritance. Furthermore, diagnosis was achieved by molecular genetic testing circumventing the need to perform a skin biopsy. [ABSTRACT FROM AUTHOR]

Epidermolytic hyperkeratosis presents with perinuclear vacuolization of the keratinocytes in spinous and granular layers, keratinocytes with ill-defined limits, which leads to a reticulate appearance of the epidermis, an increased number of variously shaped and sized basophilic keratohyalin granules and the same sized eosinophilic trichohyalin granules, at any level of epidermis, mainly in the stratum granulosum, and compact hyperkeratosis. This minor reactive pathologic reaction pattern of skin is found in large variety of diseases. This paper is the first case report of such pattern in inflammatory linear verrucous epidermal nevus. Our case is of a 23-year-old man with pruritic verrucous lesions of trunk and extremities initiated since 13 years ago. Physical examination revealed white linear hyperkeratotic lesions, some of them on erythematous background and also classic epidermal nevus. No skeletal, ophthalmic, and nervous system involvement was detected. Microscopic study of pruritic verrucous lesions showed psoriasiform acanthosis, mild papillomatous, hyperkeratosis, and epidermolytic hyperkeratotic changes in hair follicles and acrosyrinx accompanied with moderate perivascular inflammation.

Fungal infections are common in humans worldwide. Hot and humid weather conditions in the tropical countries like India make humans very susceptible to fungal infections. Tinea capitis (TC) is the superficial fungal infection of the scalp and hair. The true incidence of Tinea capitis is unknown. although infection can occur at any age. Tinea capitis is one of the most common infectious conditions in children worldwide.A total of 100 subjects were enrolled in study who were attending Dermatology Out Patient Department (OPD) in a tertiary care hospital. Hair sample was taken and culture was done on Sabouraud's Dextrose Agar(SDA).Species identification was done by slide culture.T.tonsurans was most common isolate. [ABSTRACT FROM AUTHOR]

Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. A thin detached skin sample ('jelly-roll') taken from a ruptured bulla on the abdomen was prepared for frozen section analysis. Characteristic findings of epidermolytic hyperkeratosis were seen which included hyperkeratosis with granular layer degeneration, vacuolization and eosinophilic globules. The 'jelly-roll' technique can be used for quick diagnosis with minimal trauma to the patient. Epidermolytic hyperkeratosis was subsequently confirmed by a biopsy fixed in formalin and by genetic testing. A novel missense mutation in KRT1 ( I479N) was identified. Herein, we discuss the use of the frozen section 'jelly roll' technique for rapid diagnosis in a case of bullous congenital ichthyosis erythroderma/epidermolytic hyperkeratosis. [ABSTRACT FROM AUTHOR]

Autosomal recessive congenital ichthyosis (ARCI), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. A positive in situ transglutaminase 1 activity assay excluded a putative TGM1 mutation. NIPAL4 sequencing revealed in both patients a new homozygous missense mutation, c.403A>C, affecting a highly conserved amino acid (p. Ser135Arg) and predicted to be deleterious according to in silico analysis. In addition to the ARCI features, the patients had caries and partial edentation. Although delay in dental treatment led to caries progression and extraction of secondary teeth, this finding raises the possibility of a deficiency in enamel mineralization due to NIPAL4 dysfunction as an Mg2+ transporter. Evaluating new patients with ARCI provides fruitful clinical and molecular findings. [ABSTRACT FROM AUTHOR]

Epidermolytic ichthyosis (El) is a rare autosomal dominant genodermatosis that presents at birth as a bullons disease, followed by a lifelong ichthyotic skin disorder. Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of El in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues. [ABSTRACT FROM AUTHOR]