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Two cases showed skin abnormalities without bone or neural defects.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

Fibrosing alopecia in a pattern distribution is a unique hair loss condition with inflammation and scarring, resembling but distinct from common balding.

A young woman with skin issues and weight loss improved after treating her pancreatitis and using skin treatments.

Genetic factors influence growth and brain development in children.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Hair examination helps diagnose rare neurological diseases in children.

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.

Early onset female hair loss is linked to lower hair density, scalp issues, and certain genetic factors.

Lichen planopilaris is rare, mostly affects older women, and is often linked to autoimmune diseases like lupus.

A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.

Lichen planopilaris can be accurately diagnosed and effectively treated.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

Mutations in the LSS gene cause a rare type of hereditary hair loss.

A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.

A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.

The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.

Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.

Premature graying in young children can affect self-esteem, and addressing underlying health issues may reverse it.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

Grasp protein helps maintain skin health after UVB exposure.

A new gene mutation causes insulin resistance in a girl and her mother.

People with polycystic ovary syndrome have higher levels of Gremlin-1.

Early recognition and treatment of LPP can prevent hair loss and improve quality of life.

Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.

The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.