focal dermal hypoplasia


hypoplasia

 [hi″po-pla´zhah] incomplete development or underdevelopment of an organ or tissue. adj., adj hypoplas´tic.focal dermal hypoplasia a hereditary disorder found exclusively in females, transmitted as an X-linked dominant trait, characterized typically by linear areas of hypoplasia of the skin with herniation of underlying tissue through the defects; telangiectasias; linear or reticular areas of skin discoloration; localized superficial fatty deposits in the skin; papillomas of mucous membranes or skin around various orifices; and anomalies of the extremities, including webbed fingers and toes and absence of some or all of the digits (oligodactyly or adactyly). There may also be other defects affecting the eyes, teeth, or other body systems. Called also Goltz syndrome.

fo·cal der·mal hy·po·pla·si·a

[MIM*305600] a pathologic condition of the skin and, in some cases, the mucosa inherited as an X-linked dominant with in utero lethality in males; characterized by linear areas of dermal atrophy or hypoplasia, herniation of fat through the dermal defects, and papillomas of the mucous membranes or skin; may be associated with digital, ocular, and oral anomalies, mental retardation, and bony striations. Synonym(s): Goltz syndrome

fo·cal der·mal hy·po·pla·si·a

(fōkăl dĕrmăl hīpō-plāzē-ă) Pathologic condition of the skin and, in some cases, the mucosa inherited as an X-linked dominant with in utero lethality in males; characterized by linear areas of dermal atrophy or hypoplasia, herniation of fat through the dermal defects, and papillomas of the mucous membranes or skin.

Goltz,

Robert William, U.S. dermatologist, 1923–. Goltz syndrome - Synonym(s): focal dermal hypoplasia