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A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.

Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.

A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.

Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

Ossification in trichilemmal cysts is more common than previously believed.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

Corkscrew hairs can help diagnose trichotillomania.

5% topical minoxidil improves hair density and quality in monilethrix patients.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

Congenital triangular alopecia is a hair loss condition present from birth or early childhood with no effective treatment needed.

Topical rapamycin may effectively treat fibrous papules on the face.

The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

A girl had two rare hair conditions that helped understand their overlap.

People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.

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

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.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

A rare skin condition was confirmed to be associated with a specific virus in a young girl.