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Results 1 - 9 of 9 for Generalized abnormality of skin
  1. Mandibuloacral dysplasia 
    ... have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a ...
    https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia - Genetics
  2. Junctional epidermolysis bullosa 
    ... cry and difficulty breathing.Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) ...
    https://medlineplus.gov/.../junctional-epidermolysis-bullosa - Genetics
  3. Congenital generalized lipodystrophy 
    ... of small yellow deposits of fat under the skin called eruptive xanthomas and inflammation of the pancreas (pancreatitis). Additionally, congenital generalized lipodystrophy causes an abnormal buildup of fats in ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  4. Dystrophic epidermolysis bullosa 
    ... they heal. Researchers are working to determine how abnormalities of type VII collagen also underlie the increased risk of skin cancer seen in RDEB-sev gen. COL7A1 Recessive ...
    https://medlineplus.gov/.../dystrophic-epidermolysis-bullosa - Genetics
  5. Hennekam syndrome 
    ... fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly).Abnormalities found in a few individuals with Hennekam syndrome ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  6. Generalized arterial calcification of infancy 
    ... papules on the underarms and other areas of skin that touch when a joint bends (flexor areas); and abnormalities called angioid streaks affecting tissue at the back ...
    https://medlineplus.gov/...ralized-arterial-calcification-of-infancy - Genetics
  7. Dowling-Degos disease 
    ... they are needed for the development of normal skin pigmentation. This disruption of melanosome transport is thought to cause the pigmentation abnormalities seen in individuals with Dowling-Degos disease.Mutations ...
    https://medlineplus.gov/genetics/condition/dowling-degos-disease - Genetics
  8. Mucopolysaccharidosis type II 
    ... have dysostosis multiplex, which refers to multiple skeletal abnormalities that can be seen on x-rays. Dysostosis multiplex includes a generalized thickening of certain bones, particularly the ribs.There ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
  9. Episodic ataxia 
    ... a muscle abnormality called myokymia or an eye abnormality called nystagmus can occur during or between episodes. Myokymia causes muscle cramping; stiffness; or continuous, fine muscle twitching that appears as rippling under the skin. Nystagmus refers to rapid, involuntary eye movements. Episodes ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics