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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

A person with Werner syndrome was initially thought to just have female pattern hair loss.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.

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

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

Netherton's disease causes multiple hair defects.

Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.

PAON shows skin patterns due to genetic mosaicism.

Monilethrix is linked to the type II keratin gene on chromosome 12q13.

Two new gene mutations cause a rare hair disorder.

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

Rectangular black granules, solitary yellow dots, and mostly single-hair follicles suggest Loose Anagen Hair Syndrome.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.

Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.

A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.

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

A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

Genetic testing can diagnose hair loss linked to DSG4 gene variants.

Recognizing minor skin lesions can help identify serious cancer syndromes.

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.