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21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.

A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.

A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.

A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.

An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

A rare genetic disease causes sparse hair and early blindness due to a gene mutation.

Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

Three new types of a skin blistering disease were found, caused by specific gene mutations.

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

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.

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

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.

Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.

Monilethrix causes different levels of hair loss in family members.

A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.

A 2-year-old girl had a hair disorder not shared by her identical twin.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.