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This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.

This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.

This case report describes a 62-year-old woman diagnosed with undifferentiated connective tissue disease and renal amyloidosis, presenting symptoms like joint pain, Raynaud's phenomenon, and carpal tunnel syndrome.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.

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 case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.

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 reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.

In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.

This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.

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.

This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.

This case report highlights the importance of considering hair-thread tourniquet syndrome as a potential diagnosis for girls with genital swelling and pain, emphasizing the need for prompt intervention.

This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

This case report documents a rare association between atopic eczema and pili annulati in two siblings from north India, an unusual finding not previously reported in the literature.

This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.

This report highlights a preterm newborn with hair-thread tourniquet syndrome affecting multiple toes, emphasizing the importance of early identification and removal to prevent severe complications.

This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.

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.

This report describes a case study of a 23-year-old female exhibiting multiple trichodiscomas, a type of benign tumor of the hair follicular discs common in familial cases and potentially linked to Birt-Hogg-Dube syndrome, though genetic testing was not performed due to financial constraints.

This case report describes a 4-month-old infant with hair tourniquet syndrome affecting her toes, where prompt removal of the constricting hairs led to rapid recovery without tissue damage.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.