FP296 : A rare case report of Goltz syndrome in male

Dr.Neha Kumari, N21013

Goltz Syndrome, also known as focal dermal hypoplasia is a rare X linked dominant genetic disorder. The occasional occurrence in the male is due to post zygomatic mutation.

We report a case of Goltz Syndrome in a 21 year old male, born out of non consanguineous marriage from unaffected parents. The mother gave a history of bleeding per vagina in the first trimester. There was no history of abortion or stillbirth. The siblings were unaffected.

At the time of presentation, the patient had two papilloma like growth arising from conjunctiva near medial canthus and palpebral conjunctiva of lower eyelid of the right eye. The patient also had iris and chorioretinal coloboma of the same eye. He had multiple hypopigmented atrophic lesions on his face. An excisional biopsy was performed with cryotherapy applied to the base of masses.

To conclude early recognition of Goltz syndrome is vital as multiple systems are involved ,before any further complication occurs.

Financial Interest – none