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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 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.
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]
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.
Those with Setleis syndrome may be missing eyelashes on both the upper and lower lids or may have multiple rows of lashes on the upper lids but none on the lower lids. [ citation needed ] A possible association with intra-abdominal cancer has been reported, but to date this has not been confirmed in other studies.
Endocrine insufficiency of the pancreas occurs with Johanson–Blizzard syndrome, though it is sometimes less common and less pronounced than the more prominent effects on exocrine function. [1] The islets of Langerhans are ducts in the pancreas where endocrine activity such as the release of hormones glucagon, somatostatin and insulin takes place.
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Macrocephaly-cutis marmorata telangiectatica congenita syndrome, Megalencephaly-cutis marmorata telangiectatica congenita syndrome: A newborn child with M-CM syndrome. A port-wine stain is visible under the nose. On the right side of a cheek, capillary malformations are present.