Cargando…

Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report

BACKGROUND: Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION: a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, faci...

Descripción completa

Detalles Bibliográficos
Autores principales: Tenkir, Addis, Teshome, Samuel
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2996349/
https://www.ncbi.nlm.nih.gov/pubmed/21092077
http://dx.doi.org/10.1186/1471-2415-10-28
Descripción
Sumario:BACKGROUND: Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION: a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic macules on the left side of the face, chest, abdomen and limbs. Characteristic lobster claw deformity of left hand and oligodactyly and syndactyly of left foot were present. CONCLUSIONS: FDH usually affects both sides of the body. This case represents the unusual unilateral manifestation of the syndrome.