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focal dermal hypoplasia

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focal dermal hypoplasia,
an autosomal-dominant X-linked disorder found exclusively in females, characterized by linear areas of dermal hypoplasia with herniation of underlying tissue through the defects. There are also telangiectasias, areas of discoloration, localized fatty deposits, papillomas of mucous membranes around orifices, and limb anomalies such as syndactyly, adactyly, and oligodactyly. Also called Goltz's syndrome.

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.


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Nine chapters have been added: on atopic dermatitis, proteus syndrome, Netherton's syndrome, focal dermal hypoplasia syndrome, skin gene therapy, genital disease, erythromelalgia, nursing care of pediatric skin, and the use of resurfacing, pigment, and depilation lasers.
Congenitally missing teeth are seen in Witkop syndrome, Book syndrome, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, Ellis-van Creveld syndrome, Hallermann-Streiff syndrome, focal dermal hypoplasia, lipoid proteinosis, Rieger syndrome, otodental dysplasia, Coffin-Lowry syndrome, trichodental syndrome and others.
 
 
 
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