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Focal dermal hypoplasia

Orpha number ORPHA2092
Synonym(s) Goltz syndrome
Goltz-Gorlin syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q82.8
ICD-O -
OMIM
UMLS
  • C0016395
MeSH
  • D005489
MedDRA -
SNOMED CT
  • 205573006
  • 2298005

Summary

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. The prevalence is unknown. Clinical signs constitute areas of cutaneous atrophy and periorificial papillomas that predominate around the mouth, genitalia and/or anus. Subcutaneous fatty tissue may herniate where small atrophic areas meet. Other typical findings include onychodystrophy and cicatricial alopecia. Skeletal disorders are observed at birth, with syndactyly, ectodactyly and/or aplastic fingers and toes. Osseous defects include scoliosis, hypoplastic clavicles and ribs, and a deformed thorax. As a rule, dental anomalies are associated and may include malpositioned teeth, extra teeth and enamel defects. Eyes are classically affected by coloboma of the iris, microphthalmia, and/or strabismus. Psychomotor retardation may also be present. The syndrome affects tissues deriving from the ectoderm and the mesoderm. It is transmitted as an X-linked dominant trait and is lethal in utero in male fetuses, causing high miscarriage rates in affected families. The gene causing the disease has not yet been identified but a deletion in the short arm of the X chromosome, with the point of rupture at Xp22.31, has been identified in some patients and may represent the localization of the genetic lesion. Differential diagnosis should be made with Hoffmann-Zurhelle naevus, incontinentia pigmenti, and congenital poikilodermias. Treatment is symptomatic, involving dermatological and orthopedic care. The papillomas may require surgical intervention. Individuals with severe forms of the syndrome usually die during infancy but many of the other patients have a normal life expectancy.

Expert reviewer(s)

  • Pr Dominique GERMAIN

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Detailed information

Clinical genetics review
  • EN (2013)
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