Focal dermal hypoplasia Q87.15

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 25.01.2021

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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

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

Definition
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Rare syndrome associated with cutaneous aplasia combined with skeletal abnormalities.

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

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

Clinical features
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Always skin involvement: lenticular atrophy and aplasia (see below: Aplasia cutis congenita) of the skin, confluent to larger areas. Dermal hypoplasia with hernia-like bulging of the fatty tissue is always present, but with varying degrees of severity. Overall, the result is a poikiloderma characterized by teleangiectatic, hypo- or hyperpigmented foci and mottled scarring.

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

Thick scalp hair, foci with scarred alopecia, onychodystrophy, disorders of sweat secretion. Pigment anomalies or pigmentation disorders, rarefied or missing eyebrows, skin tumours and cysts, dysplastic finger and toe nails.

About 10 patients with a unilateral infestation pattern are described.

Extracutaneous manifestations: skeletal involvement (90% of cases): syn- and polydactylia, hypo- and aplasia of fingers and toes, kyphosis, scoliosis, spina bifida, vertebral anomalies, malformations of clavicles and ribs, longitudinal striation of metaphyses of long tubular bones (osteopathia striata), cranial anomalies. Dental anomalies and eye involvement in about 50% of cases: iriscoloboma, microphthalmia, anophthalmia, strabismus, nystagmus, aniridia. Rarely affected other organs: cardiac and renal malformations, auricular malformations, conductive hearing loss, mental retardation.

Histology
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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.

Therapy
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Not necessary, possibly surgically.

Literature
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  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

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Last updated on: 25.01.2021