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Mutations in the DSG4 gene cause specific hair and scalp issues.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.

These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.

This review discusses congenital generalized hypertrichosis, focusing on its association with complex malformation syndromes, but it presents no new research findings.

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.

This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.

This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.

In this study, researchers reported a 0.11% occurrence of congenital triangular alopecia, recommending surgical treatment for women but not for men due to later potential development of androgenic alopecia.

This review discusses the various forms of congenital alopecia in domestic animals and highlights the need for improved classification due to limited understanding and rarity; it reports no new clinical results.

In this study, all four cases of congenital alopecia areata experienced periods of remission, with clobetasol propionate 0.05% achieving full hair regrowth in half of the patients treated.

This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

This review discusses the evaluation, clinical presentation, and cutaneous manifestations of congenital adrenal hyperplasia, focusing on differential diagnosis challenges with polycystic ovary syndrome, and reports no new clinical findings.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.

This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.

This case report suggests that intralesional cidofovir may be a consideration for treating squamous cell carcinoma, as it showed a successful outcome without systemic toxicity, although surgical excision remains preferred.

This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.

This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.

This case report describes a 12-year-old boy with congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis, highlighting the severe complications and the necessity for early intervention.

This study found that copper injections increased dopamine-β-hydroxylase activity in the brains of mottled mice, an animal model for Menkes' syndrome.

This review discusses molecular genetic approaches to understanding and treating hair loss disorders like papular atrichia, highlighting potential future gene-based therapies, but reports no new clinical findings.

This review discusses the fertility and pregnancy challenges faced by women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new research findings.

This study reports five cases of congenital triangular alopecia featuring a central island of short terminal hair, with the cause remaining unknown.

This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.

This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.

CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.

This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.