Diana Chaidir, Fransiskus Aditya Kristianto, Catur Suzantra Sutisna, Irhamni, Novi Kusuma, Anastasia Dessy Harsono, Sri Dharmayanti, Rita Maria, Yenny Purnama, Yenny Kumalawati Santoso, Windhi Kresnawati
Background: Goltz syndrome also known as focal dermal hypoplasia is a rare genetic condition characterized by multisystem disorder due to mutations in the PORCN gene in the chromosome Xp11.23. Approximately 300 affected individuals have been reported worldwide since 1962 and this syndrome occurs predominantly in females with 9:1 ratio. This case would describe the diagnosis approach and multidisciplinary treatment to achieve a better outcome. Case: A female full term baby born of non-consanguineous marriage presented with multiple congenital anomaly. She had low set ear, deformed pinna, right-sided facial deformity, microphtalmia with chorioretinal coloboma, multiple linear atrophied hypo- and hyperpigmented macules, lobster claw hand, omphalocele, multiple excoriation and bullae (neck, thigh and gluteal area), fat herniation on lower limb, and bladder extrophia. The baby gram showed agenesis of ulnar bone, single phalanx of left hand and 2 phalanx of right hand. Histopathology showed dermal hypoplasia, high adipocytes tissue in dermis, and lessening collagenous fiber. The omphalocele and bladder extrophy was surgically corrected. The blisters and ulcers were treated with emollient and topical antibiotic. She was discharged on day 35. At 4-month old follow up visit, the baby was doing well with normal development. Routine visit was scheduled for developmental, cognitive ability, and behavior difficulties evaluation. Conclusion: Despite a lot of congenital anomaly, the prognosis of Goltz syndrome is quite good. Histopathology is the most specific diagnostic tool for Goltz syndrome. A comprehensive and multidisciplinary team work (pediatrics, dermatologist, surgeon) is required to perform early intervention and routinely monitored systemic problems.