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Toriello-Lacassie-Droste syndrome

ORPHA3339
Synonym(s) Aplasia cutis congenita - epibulbar dermoids
Oculoectodermal syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.

Prevalence is unknown. To date 16 OES cases have been reported, without a gender predisposition.

OES manifests at birth or early infancy with epibulbar dermoids (choristoma containing fat, hair follicles and sebaceous glands) often unilateral and aplasia cutis congenita of the scalp (multiple small areas of alopecia) in about half of cases, which are occasionally with smooth muscle hamartomas. Additional ocular findings may include a skin tag of upper eye lid, corneal opacity, optical nerve or retinal abonormality or microphtalmia. Other rare findings include facial macrocephaly, arachnoid cysts, preauricular tags/pits, eye lid papilloma, giant cell granulomas of the jaw, atroventricular septal defect, coarctation of the aorta, umbilical hernia, bladder exstrophy, epispadias hyperkeratotic skin lesion, skin hyperpigmentation, non-ossifying fibromas, and rhabdomyosarcoma, and developmental delay.

Etiology is unknown. All cases reported have been sporadic.

OES has been suggested to be a milder variant of encephalocraniocutaneous lipomatosis (see this term) lacking its intracranial anomalies. Epibulbar dermoids may also be associated with epidermal nevus syndrome, Goldenhar syndrome, linear sebaceous nevus syndrome, and frontonasal dysplasia (see these terms). At later stages, differential diagnosis may also include multiple non-ossifying fibromatosis (see this term).

Expert reviewer(s)

  • Dr Willie REARDON

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