Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is an X-linked dominant disorder that features Blaschko linear streaks of skin with a markedly thinned dermis (and adipose tissue abutting the epidermis) together with ocular, dental, and skeletal abnormalities. In 2007, loss-of-function mutations in the PORCN gene (OMIM 300651) were found to cause FDH.1,2PORCN, a member of the porcupine gene family, encodes a putative O-acyltransferase that facilitates Wnt protein secretion from the endoplasmic reticulum. As important regulators of embryonic development, Wnt proteins promote fibroblast proliferation, inhibit adipogenesis, and induce osteogenesis.
Clinical features of focal dermal hypoplasia noted on presentation at age 6 years. A, Telangiectasias, hyperpigmented macules, and dermal atrophy with fat “herniations” in a linear distribution on the posterior thigh. B, Raspberrylike papillomas on the lower lip. C, Large area of membranous aplasia cutis congenita on the right parietal scalp with a thin, scarlike membrane covering a central skull defect.
Clinical (A) and histopathologic (B) images of the lesion that developed at age 8 years. A, Moist, oozing, red plaque in the posterior auricular area at the site of contact with the earpiece of the patient's eyeglasses. B, Biopsy specimen demonstrating epithelial invaginations with papillary projections lined by glandular epithelium composed of an apical layer of tall columnar cells showing decapitation secretion and a basal layer of small cuboidal cells. Fibrovascular cores contain a dense infiltrate of lymphocytes and plasma cells (hematoxylin-eosin, original magnification ×100).
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