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In this study, the authors emphasize the importance of accurately diagnosing congenital atrichia with papules—a condition marked by hair loss and papular skin lesions—differentiating it from other similar disorders to prevent unnecessary treatments and inform families about its benign but irreversible nature.

This case report describes a young male with trachyonychia with associated hypertrophic cutaneous lichen planus, reticular oral lichen planus, and nail lichen planus. The diagnosis was aided by dermoscopy and histopathology, highlighting the importance of accurate diagnosis for effective treatment and prognosis.

This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.

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

This report identified longitudinal grooves in the hair shafts of four children, diagnosing them with uncombable-hair syndrome.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

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

In this report, successful management of inherited acrodermatitis enteropathica, a zinc absorption disorder due to an SLC39A4 gene defect, was demonstrated in an infant through zinc supplementation.

This case report highlights an atypical presentation of acrodermatitis enteropathica in an 18-year-old male, exhibiting symptoms like erythrokeratoderma variabilis with a positive response to high-dose oral zinc, underscoring the importance of considering zinc deficiency in unusual skin conditions.

This study reports a unique case of trichotillomania as a presenting sign in a patient with neurological Wilson's disease, confirmed by genetic testing and copper abnormalities.

The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.

Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.

In this study, ectoderm-targeted transgenic mice with glucocorticoid receptor overexpression exhibited multiple epithelial defects, suggesting the role of NF-kappaB and p63 dysfunction in ectodermal dysplasia syndromes.

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

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

This case report describes a male child with alopecia areata and renal dysgenesis, highlighting a possible coincidental association that may require future genetic investigation.

This case report of a 16-month-old girl with acrodermatitis enteropathica, who showed atypical symptoms and normal zinc serum levels, highlights how genetic testing and zinc supplementation led to marked improvement in her condition, underscoring the importance of accurate diagnosis in metabolic disorders.

This report discusses two cases of porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus, suggesting they may represent a single clinical entity, but reports no therapeutic outcomes.

This case report describes an 8-year-old child with Down's syndrome who presented with eruptive syringomas on the face and hand.

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 study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.

This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

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 study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

This case study describes a 9-year-old girl with a homozygous EGFR gene mutation, presenting with tubulopathy and chronic dermatitis, whose ongoing symptoms and management offer insights into this rare genetic condition.

This report describes a case of trachyonychia with associated various types of lichen planus in a young male, highlighting the importance of accurate diagnosis for effective treatment.