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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

A new DSG4 gene mutation causes hair defects in a young girl.

A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.

Uncombable hair syndrome is linked to Zellweger syndrome.

Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.

A specific gene mutation causes sparse, brittle hair in a family.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.

A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

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

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.

A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.

A new mouse mutation causes skin and hair defects due to a gene change.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.

A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

The condition is likely inherited in an autosomal-dominant pattern.

Early treatment with corticosteroids improved her eye condition significantly.

A boy's hair turned red because of genetic mutations, not lack of zinc.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

Reduced matriptase activity causes skin and hair issues in both humans and mice.

Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

Somatic BHD mutations are rare in Japanese renal tumors.

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

A girl had rickets due to a gene mutation affecting vitamin D response.

The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.

The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.

Dystonia may be part of PAS-4 and linked to immune issues.