Three cases of focal dermal hypoplasia (Goltz syndrome)

Abstract

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

“…The few familial examples have been mostly mother–daughter reports 4. Transmission from mildly affected fathers to severely affected daughters was postulated to be explainable by somatic mosaicism for the putative mutation 5 6 7 8 9…”

Você conhece esta síndrome?

“…[7][8][9] GS has a broad spectrum of possible clinical manifestations. [1][2][3][4][5][6][7][8] The main general characteristics are female gender, short stature, mental retardation, asymmetry of the face, trunk and extremities. Cutaneous abnormalities may be characterized by sparse, dry and brittle hair, areas of alopecia on the scalp, anogenital, periungual or perioral papillomas, linear areas of skin hypoplasia, resembling striae, telangiectasia, hypopigmentation or hyperpigmentation following Blaschko lines, subcutaneous herniation, ungual malformations and dystrophy.…”

“…Cutaneous abnormalities may be characterized by sparse, dry and brittle hair, areas of alopecia on the scalp, anogenital, periungual or perioral papillomas, linear areas of skin hypoplasia, resembling striae, telangiectasia, hypopigmentation or hyperpigmentation following Blaschko lines, subcutaneous herniation, ungual malformations and dystrophy. [1][2][3] Possible anomalies of soft tissues are protrusion and asymmetry of the ears, hypoplastic helix, umbilical hernia, omphalocele, abnormal kidney and ureter. 5 The oral and dental anomalies described are cleft lip, prognathism, microdontia, enamel defects, irregular spacing, retarded eruption, dental agenesis or dysplasia, gingivitis, median lingual cleft.…”

“…[1][2][3][4][5] The diagnosis is the sum of numerous clinical, radiological findings, and histopathological examinations of skin lesions. 1 In the clinical case under study, there are several different findings comprising the syndrome.…”

Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

“…Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness), 8,9 Walker-Warburg 증후군, 16 Goltz 국소 피부 저 형성증(focal dermal hypoplasia), 17 Aicardi 증후군, 18,19 Goldenhar 증후군(oculoauricularverte-bral dysplasia), 20,21 그리고 선상피지모반 증후군(linear sebaceous naevus syndrome) 22 들과 관련이 있다고 한다. 최근에는 Dandy Walker…”