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A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.

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

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.

Early treatment with corticosteroids improved her eye condition significantly.

A specific gene mutation causes severe skin and nail issues and hair loss.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Two patients with Cronkhite-Canada syndrome achieved remission after treatment.

Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

Uncombable hair syndrome is linked to Zellweger syndrome.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.

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

A potential genetic link between Werner syndrome and kidney disease was suggested.

Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.

A new syndrome may link skin, growth, mental, and hair issues.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.