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This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This review discusses recent advancements in congenital adrenal hyperplasia research, including improved diagnostic techniques, alternative treatments, and insights from long-term outcome data, but it reports no new clinical results.

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.

This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.

Methimazole may cause skin defects in babies if taken during pregnancy.

This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.

This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.

A specific gene mutation causes complete hair loss in an Irish Traveller family.

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 found that frontalis suspension surgery using autologous sling material effectively provided good to excellent long-term functional and aesthetic outcomes for children with severe congenital ptosis.

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 study found that lash ptosis was more common and severe in eyes with blepharoptosis, especially congenital, compared to normal eyes.

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 review discusses the various causes and associations of eyelash trichomegaly, including congenital syndromes, acquired conditions, and drug effects, without reporting new clinical results.

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.