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The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This case study identified the condition as Monilethrix in a 17-year-old female, characterized by a beaded hair appearance and linked to a genetic cause.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This study describes a 62-year-old male with trichodaganomania, an urge to bite his mustache hair, who was treated with counseling and placebo medication, highlighting the need for a comprehensive treatment approach including potential psychological and psychiatric interventions if symptoms recur.

This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This research suggests that hair keratins evolved from claw keratins in a hairless ancestor, with Hoxc13 controlling their expression in tetrapods, evidenced by the knockout of Hoxc13 hindering claw formation in Xenopus tropicalis frogs.

This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.

This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.

In this case report, researchers documented a 19-year-old male professional athlete with acquired trichorrhexis nodosa, noting environmental factors like chlorine exposure during swimming may have contributed to his condition, which improved after advice on hair care changes.

This chapter reviews the clinical and morphological diagnostic features of various hair dysplasias, including atypical pili torti, pseudomonilethrix, and trichothiodystrophy, and reports no new results.

This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

This study identified rare nucleotide substitutions in the SLC39A4 gene in children with acrodermatitis enteropathica, suggesting a genetic component to the disease's etiology.

This case report describes an 8-year-old boy with acrodermatitis enteropathica who showed significant recovery from severe symptoms after receiving a therapeutic zinc supplement.

Two siblings have a rare genetic condition causing curly, coarse hair.

This case report describes a 16-month-old girl with atypical acrodermatitis enteropathica who showed marked improvement after zinc supplementation despite normal serum zinc levels.

This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.

This case report describes a 4-year-old boy with Netherton syndrome, where trichoscopy importantly aided diagnosis and is recommended for all children with erythroderma.

This paper suggests intralesional cidofovir as a potentially effective treatment for SCC with no systemic toxicity observed, but surgical excision remains the standard for its curative outcomes and thorough evaluation.

This study observed that moderate to severe atopic dermatitis patients showed a higher prevalence of keratoconus compared to the general population, with 6.7% having manifest KC and 20% subclinical KC, highlighting the need for increased awareness among dermatologists.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

This case report describes a patient with Clouston syndrome who developed squamous cell carcinoma, highlighting the need for regular follow-up in patients with chronic paronychia that do not respond to conventional treatments.

In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.

This report describes the first documented case of cutaneous asthenia in a crossbred spayed cat from Turkey, characterized by hyperelastic skin, alopecia, and an ulcerative wound.