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Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion. [2] Society
Bartsocas-Papas syndrome is a form of popliteal pterygium syndrome and is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. It was first described by Dr. Christos Bartsocas and is more specifically an autosomal recessive popliteal pterygium syndrome. [8]
Mitochondrial myopathy–encephalopathy–lactic acidosis–stroke syndrome; Multiple lentigines syndrome (cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, LEOPARD syndrome, progressive cardiomyopathic lentiginosis) Multiple pterygium syndrome; Multiple sulfatase deficiency (Austin disease, mucosulfatidosis)
Popliteal pterygium syndrome (PPS): Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, first described by Trelat in 1869. The clinical features of the syndrome are highly variable and show different combinations of anomalies like cleft palate, cleft lip, lower lip pits or sinuses, popliteal webbing, syndactyly ...
Most patients with hyper IgE syndrome are treated with long-term antibiotic therapy to prevent staphylococcal infections. Good skin care is also important in patients with hyper IgE syndrome. High-dose intravenous gamma-globulin has also been suggested for the treatment of severe eczema in patients with HIES and atopic dermatitis. [21]
In the meantime, if you have a personal or family history of medullary thyroid carcinoma (MTC) or multiple endocrine neoplasia syndrome type 2 (MEN2) — both extremely rare types of thyroid ...
A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants. There are many variants. Signs and symptoms
Popliteal pterygium syndrome, a congenital condition affecting the face, limbs, or genitalia but named after the wing-like structural anomaly behind the knee. Pterygium (eye) or surfer's eye, a growth on the cornea of the eye. Pterygium colli or webbed neck, a congenital skin fold of the neck down to the shoulders.