Open AccessFocal dermal hypoplasia: A rare case report
Author(s) -
Sahana M Srinivas,
Ravi Hiremagalore
Publication year - 2015
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/0019-5154.147876
Subject(s) - medicine , syndactyly , umbilical hernia , hypoplasia , deformity , genetic disorder , pulmonary hypoplasia , dermatology , anatomy , surgery , pathology , hernia , disease , pregnancy , fetus , genetics , biology
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome