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This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.

This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.

This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.

This article reviews common scalp and hair disorders in children and adolescents and outlines diagnostic approaches, but reports no new clinical findings.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.

This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.

This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.

This article reviews hair and nail disorders in children, emphasizing their prevalence, congenital and acquired origins, and the diagnostic challenges compared to treatment, but reports no new clinical results.

This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.

Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.

This article provides a diagnostic guide for clinicians to differentiate between various hair shaft disorders by using a structured question-by-question approach but does not report new clinical findings.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.

This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.

This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.

The document describes various skin conditions, their features, and treatments but lacks detailed study size information.

This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.