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This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

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 identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

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

This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.

This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.

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.

This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.

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 case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

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

This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.

This report describes a rare case of pili multigemini, where multiple hair shafts arise from a single follicle, discovered during an examination for folliculitis on a patient's abdomen.

This study revealed the complex three-dimensional innervation of touch domes in cat forepaw skin, highlighting the extensive branching and unmyelinated endings associated with Merkel cell–axon complexes.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.

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

This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.

This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.

This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.

This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.