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Focal dermal hypoplasiaQ87.15

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 28.12.2023

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Synonym(s)

Atrophodermia systematized naeviform; Atrophodermie naeviforme systematized; congenital ectodermal and mesodermal dysplasia; congenital telangiectasia with dysostosis; Dysplasia congenital ectodermal and mesodermal; Dysplasia osteo-oculo-dermal; FDH Syndrome; focal dermal hypoplasia; Focal dermal hypoplasia; Goltz-Peterson-Gorlin-Ravits Syndrome; Goltz Syndrome; hypoplasia cutis congenita; Hypoplasia focal dermal; Jessner-Cole Syndrome; Liebermann-Cole Syndrome; osteo-oculo-dermal dysplasia; systematized naeviform atrophodermia; Teleangiectasia congenital with dysostosis

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HistoryThis section has been translated automatically.

Jarisch, 1894; White, 1894; Jessner, 1921; Cole, 1941; Goltz and Gorlin, 1960

DefinitionThis section has been translated automatically.

Rare clinical picture associated with cutaneous atrophy and aplasia as well as variable other malformations, often of the skeletal system, but also of the eyes, teeth and ears.

EtiopathogenesisThis section has been translated automatically.

X-linked dominant inheritance with underlying mutations in the PORCN gene, which enables cellular transport of Wnt proteins.

ManifestationThis section has been translated automatically.

From birth or shortly after, almost exclusively in the female sex.

Clinical featuresThis section has been translated automatically.

Always skin involvement: Lens-sized, confluent to larger areas, circumscribed atrophies and aplasias (see below Aplasia cutis congenita) of the skin. Dermal hypoplasia with hernia-like protrusion of the adipose tissue is always present, but with varying severity. Overall, there is a poikilodermic picture characterized by teleangiectatic, hypo- or also hyperpigmented foci and mottled scarring.

Raspberry-like papillomas of the lips, oral mucosa, and genitoanal mucosa.

Thatched scalp hair, foci of scarring alopecia, onychodystrophy, disorders of sweat secretion. Pigmentary abnormalities or pigmentation disorders, rarefied or absent eyebrows, tumors and cysts of the skin, dysplastic finger and toe nails.

Approximately 10 patients with a unilateral pattern of involvement have been described.

Extracutaneous manifestations: skeletal involvement (90% of cases): Syn- and polydactyls, hypo- and aplasias of fingers and toes, kyphosis, scoliosis, spina bifida, vertebral anomalies, malformations of clavicles and ribs, longitudinal striation of the metaphyses of long tubular bones (osteopathia striata), cranial anomalies. Dental anomalies and ocular involvement in about 50% of cases: iris coloboma, microphthalmia, anophthalmia, strabismus, nystagmus, aniridia. Rare involvement of other organs: cardiac and renal malformations, auricular malformations, conductive hearing loss, possible mental retardation.

HistologyThis section has been translated automatically.

Hypoplasia of the corium, repair of the elastic and collagen fibres, capillary proliferation. The subcutaneous fatty tissue can reach the basal membrane of the epidermis.

Differential diagnosisThis section has been translated automatically.

Naevus lipomatodes cutaneus superficialis; Incontinentia pigmenti, Bloch-Sulzberger type; Rothmund syndrome; Aplasia cutis congenita.

TherapyThis section has been translated automatically.

Extracutaneous manifestation: Dependent on the malformations of the respective organs --> corresponding co-care of the associated specialist discipline (orthopaedics, ophthalmology, etc.).

LiteratureThis section has been translated automatically.

  1. Arias-Llorente RPet al.(2015) Focal dermal hypoplasia Due to De Novo mutation c.1061T>C(p.Leu354Pro) in the PORCN gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up. Fetal Pediatr Pathol 34:375-382.
  2. Cole HN et al (1941) Ectodermal and mesodermal dysplasia with osseous involvement. Arch Dermatol Syphil (Berlin) 44: 773-788.
  3. Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N Engl J Med 262: 908-912
  4. Bostwick B et al (2016) Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet 172C:9-20.
  5. Bree AFet al (2016) Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet 172C:44-51.
  6. Garavelli L et al.(2013) Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Am J Med Genet A 161A(7):1750-1754.
  7. Jessner M (1921) Case demonstration Breslau dermatological association. Arch Dermatol Syphil (Berlin) 133: 48.
  8. Kanitakis J et al (2003) Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study. Pediatr Dermatol 20: 249-253
  9. Nakanishi G et al (2013) Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. Eur J Dermatol 23:64-67.
  10. Skaria A et al (1995) The clinical spectrum of focal dermal hypoplasia. Dermatologist 46: 779-784

Authors

Last updated on: 28.12.2023

Author: Prof. Dr. med. Peter Altmeyer