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The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

A chubby child can still be malnourished.

Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.

Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.

Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.

The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.

Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.

A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

A boy with a rare skin condition improved quickly after starting zinc supplements.

Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Netherton syndrome causes specific skin and hair changes that help in early diagnosis.

A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.

A gene mutation causes monilethrix in a Chinese family.

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.

Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.