SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (33)

Focal dermal hypoplasia in Infant/Neonate
Other Resources UpToDate PubMed

Focal dermal hypoplasia in Infant/Neonate

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


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.


Q82.8 – Other specified congenital malformations of skin

205573006 – Focal dermal hypoplasia

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Incontinentia pigmenti
  • Rothmund-Thomson syndrome
  • Conradi disease
  • Aplasia cutis congenita
  • Nevus lipomatosus superficialis
  • Encephalocraniocutaneous lipomatosis
  • Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC syndrome)

Best Tests

Subscription Required

Management Pearls

Subscription Required


Subscription Required


Subscription Required

Last Updated:12/18/2022
Copyright © 2024 VisualDx®. All rights reserved.
Focal dermal hypoplasia in Infant/Neonate
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.