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Background: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. Objectives: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype–genotype correlations. Methods: We performed a 10‐year, large, prospective, multicentric, collaborative dermatological and genetic study. Results: Thirty‐one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype–genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). Conclusions and Relevance: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS. [ABSTRACT FROM AUTHOR]

This article presents a case study of a 59-year-old woman who developed systemic allergic dermatitis after receiving an iodinated contrast media injection for a computed tomography scan. The patient experienced erythematous and vesicular lesions, with skin manifestations lasting for about 3 months despite treatment with corticosteroids. Intradermal tests confirmed a reaction to the contrast media, leading to a major flare-up of symptoms. The study highlights the challenges and complexities of diagnosing and managing delayed hypersensitivity reactions to contrast media, emphasizing the importance of thorough testing and patient follow-up. [Extracted from the article]

We report the case of a 7‐year‐old girl with severe generalized prurigo associated with diffuse persistent pruritic nodules due to sensitization to aluminum‐adsorbed vaccines. Treatment with dupilumab resulted in an excellent therapeutic response. [ABSTRACT FROM AUTHOR]

Atypical tuberous myxedema (ATM) is a rare skin condition first described by Jadassohn and Dössekker in 1916.[1] Belonging to the heterogeneous group of mucinoses, ATM is considered as an atypical presentation of scleromyxedema with diffuse nodular thickening of the skin and without monoclonal gammopathy. A biopsy sample from a nodule revealed diffuse dermal mucin deposits, extensive fibrosis and fibroblastic proliferation. A deep incisional biopsy sample of the neck revealed diffuse deposit of mucin associated with an extensive fibrosis and a fibroblastic proliferation. [Extracted from the article]

We report 20 newborns who developed, at a median age of 7 days, large abdominal patches of radially arranged purplish telangiectasia in a bilateral and symmetrical pattern in relation to the midline, creating a "butterfly wing" pattern. Clinical examination was normal in 13 newborns, six newborns had abdominal distention, and one newborn had poor weight gain due to inadequate breastfeeding. Most lesions spontaneously resolved within 3 months and did not reoccur for 19 newborns. Transient abdominal telangiectasia of the newborn (TATN) appears to be a distinctive entity that has not been previously described. [ABSTRACT FROM AUTHOR]

This article discusses the BASCULE syndrome, a condition characterized by Bier anemic spots, cyanosis, and urticaria-like eruption. The authors conducted a retrospective study of 33 adolescents and adults with BASCULE syndrome, finding a female predominance and a median age of symptom onset at 13 years. The syndrome was triggered by orthostatism and involved the lower limbs and upper limbs. The study also found associations with autonomic dysfunction, including postural orthostatic tachycardia syndrome (POTS) and orthostatic hypotension, as well as electrocardiographic abnormalities. However, no significant clinical improvement was observed with treatment. The authors suggest further research on the potential efficacy of propranolol for BASCULE syndrome. [Extracted from the article]

Aim: Infantile haemangioma (IH) is the most common benign tumour in children. Since 2014, propranolol has become the first‐choice therapy and currently Hemangiol is the only approved drug for complicated haemangioma. This post‐marketing study reports the use of Hemangiol for IH in paediatric practice. Method and Results: From January 2014 to November 2018, 94 children (median age 4 [0; 21] months; 75% female) treated with Hemangiol for proliferative IH were enrolled in the study. The systematic paediatric cardiology consultation never contraindicated beta‐blockers. Two Hemangiol initiation protocols were used: a conventional ambulatory 3‐week titration phase protocol (n = 76, 80.9%), and a rapid initiation protocol with a 48‐hour dose escalation in conventional hospitalization for severe proliferative or ulcerated IH (n = 18, 19.1%). In both protocols, the haemodynamic tolerance was good. The mean maintenance dose of Hemangiol was 2.7 ± 0.8 mg/kg/day, with a median treatment duration of 7 [1.5; 19] months. Adverse events (AEs) have been found in 25 (26,6%) patients, including 8 (8.5%) patients with serious AEs (uncontrolled bronchial hyperreactivity, n = 5; serious hypoglycaemia, n = 3). Some patients had one or more AEs, a total of 24 nonserious AEs was reported in 19 patients (sleep disturbances, n = 9; respiratory disorders, n = 5; digestive disorders, n = 6). No cardiac adverse event was reported. Conclusion: This post‐marketing surveillance drug study supports the good tolerance of Hemangiol in children with IH. A rapid initiation protocol is of interest when treatment is urgent. The pretherapeutic paediatric cardiology consultation should not be systematic but only indicated for specific patients. ClinicalTrials.gov: NCT 04105517. [ABSTRACT FROM AUTHOR]

Background: The diagnosis of PTEN hamartoma tumor syndrome (PHTS) is difficult in children because they usually do not meet diagnostic criteria. The objective of our study was to characterize lipoma as an early presentation of PHTS. Methods: We performed a retrospective review of children with PHTS diagnosed in French academic hospitals from 2000 to 2019. We included patients presenting at least one lipoma and PTEN‐related disorder confirmed genetically. Results: Thirteen children were included (mean age 5.5 years [range 2.5‐16]). All children had solitary (n = 5) or multiple (n = 8) lipomas, all located on the trunk. Clinical examination revealed macrocephaly in all patients. Genital lentiginosis was found in all patients in whom genitalia were examined (n = 6). Conclusions: In addition to the classical presentation of PHTS with neurological disorders and macrocephaly, some patients, especially the youngest ones, have an initial dermatologic presentation with multiple lipomas. Search for penile freckling and macrocephaly in these patients allows for the diagnosis of PHTS. Lipomatosis should be a major diagnostic criterion in children. [ABSTRACT FROM AUTHOR]

Objective: Anti–transcription intermediary factor 1γ (anti‐TIF1γ) antibodies are the main predictors of cancer in dermatomyositis (DM). Yet, a substantial proportion of anti‐TIF1γ–positive DM patients do not develop cancer. This study was undertaken to identify biomarkers to better evaluate the risk of cancer and mortality in DM. Methods: This multicenter study was conducted in adult anti‐TIF1γ–positive DM patients from August 2013 to August 2017. Anti‐TIF1γ autoantibody levels and IgG subclasses were identified using a newly developed quantitative immunoassay. Age, sex, DM signs and activity, malignancy, and creatine kinase (CK) level were recorded. Risk factors were determined by univariate and multivariate analysis according to a Cox proportional hazards regression model. Results: Among the 51 adult patients enrolled (mean ± SD age 61 ± 17 years; ratio of men to women 0.65), 40 (78%) had cancer and 21 (41%) died, with a mean ± SD survival time of 10 ± 6 months. Detection of anti‐TIF1γ IgG2 was significantly associated with mortality (P = 0.0011) and occurrence of cancer during follow‐up (P < 0.0001), with a 100% positive predictive value for cancer when the mean fluorescence intensity of anti‐TIF1γ IgG2 was >385. None of the patients developed cancer after 24 months of follow‐up. Univariate survival analyses showed that mortality was also associated with age >60 years (P = 0.0003), active DM (P = 0.0042), cancer (P = 0.0031), male sex (P = 0.011), and CK level >1,084 units/liter (P = 0.005). Multivariate analysis revealed that age >60 years (P = 0.015) and the presence of anti‐TIF1γ IgG2 (P = 0.048) were independently associated with mortality. Conclusion: Our findings indicate that anti‐TIF1γ IgG2 is a potential new biomarker of cancer that should be helpful in identifying the risk of mortality in anti‐TIF1γ–positive DM patients. [ABSTRACT FROM AUTHOR]

Granulomatous dermatitis following the administration of various vaccines has previously been reported. However, cases of cutaneous granulomatosis following the measles, mumps, and rubella (MMR) vaccine have not yet been reported. We report the case of a 3‐year‐old boy with a granuloma annulare‐like reaction following MMR vaccination. [ABSTRACT FROM AUTHOR]

Eccrine nevi are rare hamartomas characterized by an increase in the number or size of eccrine glands. A polypoid form located in the coccygeal area has been described in a few cases and termed coccygeal polypoid eccrine nevus ( CPEN). No association with internal malformations was reported in any of these cases. We describe herein a case of CPEN associated with imperforate anus and unilateral multicystic kidney dysplasia. We review the clinical and pathological characteristics of CPENs and discuss the differential diagnoses. [ABSTRACT FROM AUTHOR]

Objective Hypocomplementemic urticarial vasculitis (HUV) is an uncommon vasculitis of unknown etiology that is rarely described in the literature. We undertook this study to analyze the clinical spectrum and the therapeutic management of patients with HUV. Methods We conducted a French nationwide retrospective study that included 57 patients with chronic urticaria, histologic leukocytoclastic vasculitis, and hypocomplementemia. We assessed clinical and laboratory data and evaluated the patients' cutaneous and immunologic responses to therapy. We evaluated treatment efficacy by measuring the time to treatment failure. Results Urticarial lesions were typically more pruritic than painful and were associated with angioedema in 51% of patients, purpura in 35%, and livedo reticularis in 14%. Extracutaneous manifestations included constitutional symptoms (in 56% of patients) as well as musculoskeletal involvement (in 82%), ocular involvement (in 56%), pulmonary involvement (in 19%), gastrointestinal involvement (in 18%), and kidney involvement (in 14%). Patients with HUV typically presented with low C1q levels and normal C1 inhibitor levels, in association with anti-C1q antibodies in 55% of patients. Hydroxychloroquine or colchicine seemed to be as effective as corticosteroids as first-line therapy. In patients with relapsing and/or refractory disease, rates of cutaneous and immunologic response to therapy seemed to be higher with conventional immunosuppressive agents, in particular, azathioprine, mycophenolate mofetil, or cyclophosphamide, while a rituximab-based regimen tended to have higher efficacy. Finally, a cutaneous response to therapy was strongly associated with an immunologic response to therapy. Conclusion HUV represents an uncommon systemic and relapsing vasculitis with various manifestations, mainly, musculoskeletal and ocular involvement associated with anti-C1q antibodies, which were found in approximately half of the patients. The best strategy for treating HUV has yet to be defined. [ABSTRACT FROM AUTHOR]

Dear Editor, Segmental infantile hemangioma (IH) can be associated with specific syndromes, constituting an association of developmental defects. Sternal defects including, sternal pit, sternal cleft, or supraumbilical raphe are major criteria for diagnosis of the syndrome.1 Midline anomalies are also found in PELVIS syndrome,3 although infraumbilical raphe has not been previously described in either PELVIS or PHACE(S). [Extracted from the article]

Many causes of what was formerly called Weber-Christian and Rothmann-Makai diseases are being clarified as specific forms of panniculitis. Among them, an autoimmune process involving the subcutaneous fat without criteria for another defined disorder coined “connective tissue panniculitis” by Winckelman et al in 1980 has been described. We describe this disease in a 4-year-old boy who presented with multiple subcutaneous inflammatory nodules that extended in an annular fashion, resolved leaving lipoatrophy, with recurrence 8 years later. The histologic findings were consistent with a granulomatous lipophagic panniculitis. We review previous reports and emphasize the limited therapeutic options, chronic evolution, severe esthetic sequelae and possible association with other autoimmune disorders of this uncommon condition. [ABSTRACT FROM AUTHOR]

Phrynoderma is a rare form of follicular hyperkeratosis associated with deficiencies in vitamins A or C or essential fatty acids. We report a 6-year-old boy with an unusual presentation of phrynoderma, characterized by multiple minute digitate hyperkeratoses associated with hair casts and related to a severe deficiency in vitamins A and C complicating a chronic intestinal giardiasis. The lesions responded well to oral vitamins A and C combined with albendazole treatment. Vitamin A deficiency-related phrynoderma is rare in western countries and is usually caused by digestive malabsorption resulting from large intestine resection or pancreatic failure. To our knowledge, this is the first reported instance of phrynoderma related to a chronic intestinal parasitic infection by Giardia intestinalis with intestinal malabsorption as a likely consequence. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented discussing a case study of a 36-year-old male patient with leg ulcers revealing systemic sarcoidosis with splenomegaly and thrombocytopenia.

Abstract: Persistent itching nodules related to aluminium‐adsorbed vaccines are well known in children with frequent positive patch tests to aluminium when tested. We report two cases of children with persistent postvaccination nodules who presented with atypical eruptions after aluminium patch tests. [ABSTRACT FROM AUTHOR]

Rationale Objectives Methods Results Conclusion Sirolimus is a treatment for slow‐flow vascular malformations (SFVMs). However, the long‐term management remains challenging.The SIROLO study assessed the long‐term effects and real‐life management of oral sirolimus for SFVMs by investigating data from 15 French tertiary centres for vascular anomalies.Participants were retrospectively included if they had a SFVM that was being/had been treated with sirolimus for at least 3 years in total. Data were collected on treatment goals when initiating sirolimus, investigator‐reported efficacy, safety, dosages and treatment withdrawal.The cohort involved 67 patients with various SFVM entities (mean [±SD] age 19.6 ± 12.5 years, 35 children, 52.2%). We found a heterogeneity of predefined treatment goals, the most frequent being cessation of pain. The investigators considered that sirolimus had persistent efficacy for bleeding, ulceration and pain but only slight efficacy for reducing volume. It was reported to be well‐tolerated, although serious adverse events (mainly infections and also two ovarian cysts) were reported in 6 patients (9.0%) and required definitive sirolimus discontinuation for one. Overall, 11 patients (16.4%) had at least one temporary withdrawal period, leading to symptom recurrence and sirolimus resumption at a mean of 6.4 ± 9.6 months. The mean sirolimus concentration was 6.4 ± 3.7 ng/mL during the first 6 months and decreased over time (mean concentration during the last 6 months: 4.2 ± 3.2 ng/mL), probably to target the minimal efficient dosage. Eight patients (11.9%) switched to alpelisib because of insufficient efficacy of sirolimus.This real‐life study gives answers to frequent questions patients and parents ask before sirolimus initiation for SFVMs, such as persistence of efficacy over time, long‐term side effects and time to recurrence in case of withdrawal. [ABSTRACT FROM AUTHOR]

The article describes a case of immunoglobulin A nephropathy (IgAN) in a 56-year-old man undergoing infliximab therapy for severe psoriasis and peripheral arthritis. The patient reported microscopic hematuria and proteinuria following the fifth infusion. He received angiotensin-converting enzyme inhibitor therapy and a salt-free diet was initiated.

A letter to the editor is presented which discusses photodynamic therapy (PDT) with the use of subcutaneous infusion tumescent anesthesia (SCITA) as a safe and effective method in PDT pain control.

The article presents a case study of a nine-month-old girl with hypopigmented scaly eruption bullous contact dermatitis caused of using eutectic mixture of local anesthetics (EMLA) cream. It states that patch testing was useful to detect the culprit component. It adds that the occurrence of vesiculo-bullous rash in the first hour after the application with prilocaine and lidocaine support the toxic reaction rather than the immune hypersensitivity reaction.

Werner syndrome (WS) is a pleiotropic disease of premature aging involving short stature, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset cataracts. Additional common symptoms include diabetes mellitus, hypogonadism, osteoporosis, osteosclerosis of the digits, soft tissue calcification, premature atherosclerosis, rare or multiple neoplasms, malformed teeth, and flat feet. Diagnosis can be difficult due to the variable presentation and rarity of the disorder. Transmission is usually autosomal recessive. The WS gene, WRN, is member of the RecQ DNA helicase family. Biallelic mutations of WRN are responsible for most patients. Although heterozygous missense mutations in the LMNA gene have been observed in severely affected WS patients, this only accounts for a small fraction of non- WRN patients. Eighteen WS cases were referred to us for molecular analysis. Eleven had definite and three had probable WS according to the University of Washington Registry clinical criteria. All exons of the WRN gene and their splice junctions were sequenced. Of the fourteen definite or probable cases, 11 had one or more WRN mutation. Thirteen different mutations were found, and ten of these were previously undescribed. There were few phenotypic differences between patients with WRN mutation(s) and those who met clinical criteria though lacking WRN mutations. However, patients with mutations tended to have more symptoms overall, and mutations were not observed in the two cases with cardiomyopathy. © 2006 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]