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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.
Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin. Signs and symptoms
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.
Congenital malformations of the dermatoglyphs are a cutaneous condition divided into four main categories based on the appearance of the dermal ridges of which they are composed: (1) ridge aplasia; (2) ridge hypoplasia; (3) ridge dissociation; and (4) ridges-off-the-end.
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 ]
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 disorder was recognized as a distinct syndrome in 1997 and named macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. [12] [13] A new name, macrocephaly-capillary malformation, abbreviated M-CM, was recommended in 2007. [14] This new name was chosen to more accurately describe the skin markings associated with this disorder.
Aplasia is a rare condition. Radial aplasia and pure red cell aplasia, particularly the acquired form of pure red cell aplasia, are the most common types. Radial aplasia affects about one in every 30,000 newborns. Radial ray deficiencies, such as radial aplasia, are one of the most common congenital arm disabilities.