1 citations
,
October 2025 in “Journal of Dermatological Treatment” Dupilumab improves eczema in Netherton Syndrome but not ichthyosis linearis circumflexa.
111 citations
,
May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
478 citations
,
September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
2 citations
,
September 2021 in “Journal of Pathology of Nepal” Most skin cysts were common types found in unusual body parts, and examining tissue samples is important for accurate diagnosis.
October 2024 in “Developmental Dynamics” Recent advances show zebrafish can model anemia, Alx4 affects craniofacial and hair development, and mTORC1 is crucial for retinal development.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.