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Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

TTD symptoms vary widely, requiring thorough evaluations.

A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.

A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.

Children and adults with Cushing's disease show different symptoms and males have more severe cases; surgery outcomes can be predicted by certain factors.

Recognizing minor skin lesions can help identify serious cancer syndromes.

A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

The study found that Short Anagen Syndrome results in short hair growth not due to hair fragility, and hair may grow longer after puberty.

Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

The girl has a genetic hair condition causing thin hair since childhood.

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.

A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.

5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.

Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.

A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.

Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.