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Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. [2] The scalp is the most commonly involved area with lesser involvement of trunk and extremities.
Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails.
Cutis aplasia congenita is defined as missing skin over any area of the body at birth; in AOS skin aplasia occurs at the vertex of the skull. The size of the lesion is variable and may range from solitary round hairless patches to complete exposure of the cranial contents.
Aplasia cutis congenita is a condition in which some or large portions of the skin is missing at birth. The disorder is most commonly seen on the scalp, often as a solitary lesion without other abnormalities.
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a very rare genetic disorder which is characterized by aplasia cutis congenita, intestinal lymphangiectasia-induced generalized edema, hypoproteinemia, and lymphopenia. [1] [2] It has been described in two Ashkenazi Jewish brothers. [3] [4]
This condition is also known as Brauer syndrome (hereditary symmetrical aplastic nevi of temples, bitemporal aplasia cutis congenita, bitemporal aplasia cutis congenita: OMIM 136500) and Setleis syndrome (facial ectodermal dysplasia: OMIM 227260).
Aplasia cutis autosomal recessive; Aplasia cutis congenita; Aplasia cutis congenita dominant; Aplasia cutis congenita epibulbar dermoids; Aplasia cutis congenita intestinal lymphangiectasia; Aplasia cutis congenita of limbs recessive; Aplasia cutis congenita recessive; Aplasia cutis-myopia; Aplasia/hypoplasia of pelvis, femur, fibula, and ulna ...
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. [1] Other findings include congenital nystagmus , atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus . [ 2 ]