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Results 1 - 10 of 13 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. KRT5 gene 
    ... Dowling-Degos disease. This condition results in various skin abnormalities, including a characteristic lacy pattern of abnormally dark ... leading to the development of different types of skin abnormalities. Additionally, a deficiency of keratin 5 may disrupt ...
    https://medlineplus.gov/genetics/gene/krt5 - Genetics
  3. POFUT1 gene 
    ... Dowling-Degos disease. This condition results in various skin abnormalities, including a characteristic lacy pattern of abnormally dark skin coloring (hyperpigmentation) that occurs most often in the ...
    https://medlineplus.gov/genetics/gene/pofut1 - Genetics
  4. IL36RN gene 
    ... been found to increase susceptibility to a serious skin disorder called generalized pustular psoriasis (GPP). Individuals with this condition have ... IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 2011 Sep ...
    https://medlineplus.gov/genetics/gene/il36rn - Genetics
  5. LAMA3 gene 
    ... layers of skin or regulate wound healing. These abnormalities of laminin 332 cause the chronic skin ulceration and overgrowth of granulation tissue that are ...
    https://medlineplus.gov/genetics/gene/lama3 - Genetics
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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