title: Goltz syndrome: a newborn with ectrodactyly and skin lesions.
abstract: Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to postzygotic somatic mutations. The clinical spectrum includes characteristic cutaneous manifestations, multiple skeletal anomalies, and involvement of the eyes, hair, nails, kidneys, and so on. Considerable variability is noted in the clinical expression of the disease probably due to genomic mosaicism. Around 300 cases of Goltz syndrome have been reported in the literature. Here, we report such a case with characteristic skin lesions, multiple bony defects, distinctive facial features, coloboma of iris, and bilateral hydronephrosis. The diagnosis was evident immediately after birth due to the characteristic clinical picture of the baby.
authors: Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India.
authors: Shatanik
authors: S
authors: Sarkar
authors: Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India.
authors: Chaitali
authors: C
authors: Patra
authors: Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India.
authors: Amit
authors: A
authors: Das
authors: Department of Pediatric Medicine, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, West Bengal, India.
authors: Sutirtha
authors: S
authors: Roy
keywords: Atrophic; cutaneous; ectrodactyly; focal dermal hypoplasia