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A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.

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

Tofacitinib may effectively treat skin symptoms in difficult cases of dermatomyositis.

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

A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.

Netherton's syndrome may have a familial link and doesn't always include atopy.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.

A woman had meningitis caused by mixed connective tissue disease, not an infection.

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

The patient had paraneoplastic pemphigus without mucosal involvement.

Pro-IGF-II improves muscle repair in old mice.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.

Mutations in the DSG4 gene cause specific hair and scalp issues.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

Most patients with cutaneous dermatomyositis either improved or remained stable over 3.5 years.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

The condition might be caused by genetic changes after birth.

Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.

Different keratins have unique expression patterns in mouse skin cells.

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

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

The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

A woman with severe hypothyroidism had a rare skin condition usually linked to a different thyroid disease.