HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Rare syndrome associated with cutaneous aplasia combined with skeletal abnormalities.
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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.
Clinical featuresThis section has been translated automatically.
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.
HistologyThis section has been translated automatically.
Differential diagnosisThis section has been translated automatically.
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LiteratureThis section has been translated automatically.
- 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.
- Cole HN et al (1941) Ectodermal and mesodermal dysplasia with osseous involvement. Arch Dermatol Syphil (Berlin) 44: 773-788.
- Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N Engl J Med 262: 908-912
- 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.
- Bree AFet al (2016) Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet 172C:44-51.
- 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.
- Jessner M (1921) Case demonstration Breslau dermatological association. Arch Dermatol Syphil (Berlin) 133: 48.
- 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
- 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.
- Skaria A et al (1995) The clinical spectrum of focal dermal hypoplasia. Dermatologist 46: 779-784
Incoming links (27)Anetodermia; Aplasia cutis congenita (overview); Atrophodermia, naeviform, systematized; Atrophodermia, systematized naeviform; Bannayan-riley-ruvalcaba syndrome; Basal cell carcinomatosis; Birt-hogg-dubé syndrome; Blaschko lines; Delleman syndrome; Dental diseases, skin changes; ... Show all
Outgoing links (7)Aplasia cutis congenita (overview); Atrophy of the skin (overview); Incontinentia pigmenti (bloch-sulzberger); Nevus lipomatosus cutaneus superficialis; Onychodystrophy (overview); Papilloma; Rothmund syndrome;
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