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Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

A specific gene mutation causes woolly hair and hair loss.

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

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

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

Monilethrix severity varies and may be influenced by other genetic or environmental factors.

HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.

Infectious cerebral vasculitis can be a severe complication of meningoencephalitis, regardless of the pathogen.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A medication called sodium valproate likely caused a girl's hair to become kinky and dry.

Secukinumab treatment may cause HBV reactivation and hair discoloration.

Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.

Kidney-yang deficiency syndrome causes hormonal imbalances and various physical symptoms.

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

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.

Loss of keratin K2 causes skin problems and inflammation.

Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.

Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.

Hepatitis B vaccination can trigger HSP, and vitamin D correction and tonsillectomy can effectively manage it.

A KRT32 gene variant causes loose anagen hair syndrome.

Eruptive vellus hair cysts are harmless skin bumps that may go away on their own.

Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.

Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.