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Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.

This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.

This case report highlights a 12-year-old boy with twenty nail dystrophy in isolation, emphasizing the need for thorough physical exams to distinguish nail disorders and provide appropriate management and counseling on the condition's benign nature and good prognosis.

Isolated patchy heterochromia with pili annulati can occur without other health issues.

This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.

This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.

This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.

This case report describes a unique presentation of porokeratotic eccrine ostial and dermal duct nevus with lesions on the dorsum of the hand and a focal lichenoid infiltrate, differing from typical palm and sole involvement.

This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

This article discusses congenital atrichia and presents no new clinical findings.

This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.

This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.

This article reviews the evolution of syndactyly repair techniques, highlighting a shift towards graftless approaches to avoid complications associated with skin grafts, but reports no new clinical outcomes.

This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.

This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This case report describes a rare instance of Olmsted syndrome with hypotrichosis in a 5-year-old boy, noting mild improvement in symptoms following treatment with oral acitretin and other interventions.

This report documents a rare case of familial eyelash trichomegaly and synophrys in three siblings, with one sister also having loose anagen hair syndrome, an unreported association.

This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study presented two brothers with hereditary acrodermatitis enteropathica who had normal zinc serum levels and experienced skin and hair lesions, but no dental disorders.

This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.