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

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

A girl inherited excessive body hair from her mother and grandmother.

The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

HLD10 can include increased body hair and Mongolian spots.

Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.

Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.

Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

Consider NF1 in newborns with rare congenital anomalies.

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

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

The patient's hair improved after treatment, but the genetic link is unclear.

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

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.

Hairy elbows may be linked to short stature, but the exact cause is unclear.

A 38-year-old African American woman has a rare condition that prevents her from growing long hair.

Two new gene mutations cause a rare hair disorder.

Progerin affects cell shape but not hair or skin in mice.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

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

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.

Giant axonal neuropathy changes the structure of keratin in human hair.