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A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.

Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.

Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.

Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.

A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.

Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.

A vitamin D receptor mutation causes rickets and affects immune responses.

Anemia in pregnant women is linked to being younger, having lower income, and drinking coffee, while regular check-ups and age reduce risk.

Iron supplements can restore normal hair color in cases of premature graying linked to iron deficiency.

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

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

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

High-dose IV iron is safe and effective for treating anaemia in IBD patients.

A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.

A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.

Frequent blood transfusions in beta thalassemia can lead to thyroid problems.

Iron deficiency causes hair loss by affecting hair differentiation and cycling.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

Iron deficiency can cause certain skin issues like eczematous hand and perioral lesions.

Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.