Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Abnormalities > Skin Abnormalities Terms and Definitions
Skin Abnormalities
Medical Definition: | Congenital structural abnormalities of the skin. |
Guide Notes: | for congen struct abnorm only; GEN or unspecified; prefer specifics; DF: SKIN ABNORM |
Previously Indexed: | Skin/abnormalities (1966-1997) |
Acrodermatitis - Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome. | |
Dyskeratosis Congenita - A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin. | |
Epidermolysis Bullosa - Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties. | |
Ichthyosis - Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. | |
Poikiloderma Congenitale - An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism. | |
Port-Wine Stain - A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483) | |
Sclerema Neonatorum - A severe, sometimes fatal, disorder of adipose tissue occurring chiefly in preterm or debilitated infants suffering from an underlying illness and manifested by a diffuse, nonpitting induration of the affected tissue. The skin becomes cold, yellowish, mottled, and inflexible. |
Skin Abnormalities Medical Definitions and Terms
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