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

THA is a rare condition with no significant clinical consequences if thyroid function is normal.

Nevus sebaceous is identified by unique skin changes, including thickened skin, fewer hair follicles, and many sebaceous glands.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

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

Delayed puberty often runs in families, can affect growth, and may need hormone treatment.

Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.

Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.

Iron deficiency anemia can cause hair breakage.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

Nilotinib can cause keratosis pilaris, a skin condition.

The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.

Mutations in the KLHL24 gene cause a skin disorder in some Russian families.

Loss of Msx2 function causes eye development issues similar to Peters anomaly.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.

A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.

A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.

The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.

Certain genetic variants in keratins increase the risk of tooth decay.

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

A 3-year-old girl has short anagen syndrome, causing her hair to stay short.

Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.

An 8-year-old boy with bed-wetting issues suffered a severe penile injury from tying a thread around his penis, requiring urgent medical treatment to avoid worse outcomes.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.

Trichoscopy can help diagnose early congenital syphilis in newborns.