A case report of focal dermal hypoplasia-Goltz syndrome
A five-year-old female born out of non-consanguineous marriage presented to the outpatient department for right-sided facial deformity with multiple generalized skin lesions since birth. She was delivered normally with no untoward perinatal event. She was second in birth order and her two sisters were normal. She did not have developmental delay and was going to school. She was weighing 10.2 kilograms and her height was 96 centimeters as against expected weight and height of 18 kilograms and 105 centimeters, respectively. She had right-sided facial hypoplasia [] with unilateral notching of right ala nasi, deformed pinna with low set ears. She had concomitant squint with coloboma iris in right eye along with patchy alopecia. Dental check up showed maloccluded, hypoplastic irregular dentition. Cutaneous examination revealed multiple linear atrophied hypo- and hyperpigmented macules along the lines of Blaschko []. She had limb deformities in the form of syndactyly in both feet, polydactyly in left foot [] and clinodactyly of right fifth finger. She also had multiple papillomas on lips, fat herniation over the lower limbs and umbilical hernia. Onychodystrophy was also present. Her right-sided chest was flattened and lordosis was observed on standing.\nSystemic examination was normal. Ultrasound of abdomen, echocardiography was normal. However, the patient did not consent for a skin biopsy. Radiographs of the long bones showed the features of osteopathia striata in the form of symmetrical striations in metaphyses. Goltz syndrome was considered and the patient was counseled accordingly. Patient was referred first to plastic surgeon for polysyndactyly and to dental surgeon for malocclusion teeth and counseled to visit next to orthopedician & ophthalmologist.