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A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

A unique gene mutation was found in a family with monilethrix.

Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.

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

Kawasaki's disease can occur in adults and should be considered with specific symptoms and high ferritin levels.

Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

Mutations in the hairless gene cause a rare form of permanent hair loss.

The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.

Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.

Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.

B6.Cg-Tyr c−2J Hr hr /J mice have a stronger delayed sunburn reaction and are good for UV research.

A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.

Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.

AE can have varied symptoms and genetic causes, but zinc therapy helps.

Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.

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