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Focal dermal hypoplasia in Adult
Other Resources UpToDate PubMed

Focal dermal hypoplasia in Adult

Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare X-linked dominant disorder affecting primarily females, with sporadic cases occurring in males as a result of post-zygotic mutations. Newborns can present with linear, streaky cutaneous atrophy with telangiectasias that follow Blaschko lines. They can also have ulcers at sites of congenital absence of skin that heal with atrophy. Soft red-yellow nodules (fat herniations) occur along Blaschko lines. Other abnormalities that can also be present at birth include: bone – syndactyly, polydactyly, oligodactyly with lobster-claw deformity and asymmetry; ocular – microphthalmia, anophthalmia, strabismus, coloboma, and aniridia; and aplasia cutis congenita.

Later, hypo- and hyperpigmentation with herniation of the subcutaneous fat occurs. Fleshy and vascular papillomas can develop on mucosal, perioral, perigenital, and intertriginous areas. Nail dystrophy, sparse hair, and intellectual disability can also be present. The characteristic bony finding on x-ray is vertical striations in the metaphysis of long bones called osteopathia striata. Osteopathia striata is generally found in older patients.

Patients with FDH generally have a normal lifespan but may be handicapped by skeletal deformities. The skin, eye, teeth, central nervous system, and skeletal anomalies can have other psychosocial consequences.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
205573006 – Focal dermal hypoplasia

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Last Updated:12/18/2022
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Focal dermal hypoplasia in Adult
A medical illustration showing key findings of Focal dermal hypoplasia : Hypoplastic phalanges, Limb hypoplasia, Whorled configuration, Skin ulceration, Skin atrophy
Clinical image of Focal dermal hypoplasia - imageId=2240988. Click to open in gallery.  caption: 'White atrophic papules and plaques on the buttock and posterior thigh.'
White atrophic papules and plaques on the buttock and posterior thigh.
Copyright © 2024 VisualDx®. All rights reserved.