Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

Abstract

Objective Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.

Goltz Syndrome Combined with Triple X Syndrome, a Case Report

“…Only five cases of Goltz syndrome combined with a facial cleft have been reported before. [7][8][9][10][11] One case had a Tessier No. 7 facial cleft, and the others had oblique facial clefts.…”

Eccrine hidrocystomas presenting as multiple papules on the cheeks

“…Rare syndromes associated include Goltz syndrome (focal dermal hypoplasia) and Schopf-Schulz-Passarge syndrome (SSPS). Goltz syndrome usually occurs sporadically in females, with some cases demonstrating X-linked dominant transmission [2]. Features include multiple periocular hidrocystomas, facial and genital papillomas, dermal hypoplasia, ectrodactyly, and mental retardation [2].…”

“…Goltz syndrome usually occurs sporadically in females, with some cases demonstrating X-linked dominant transmission [2]. Features include multiple periocular hidrocystomas, facial and genital papillomas, dermal hypoplasia, ectrodactyly, and mental retardation [2]. Schopf-Schulz-Passarge syndrome (SSPS) presents in adulthood with multiple apocrine hidrocystomas of the eyelids [4].…”

Papillary adenoid hyperplasia in focal dermal hypoplasia

“…Although the cutaneous fea- tures predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. 3 This syndrome is characterized by hypoplasia of skin and papilloma. 4 Arborescent papillomas of the oral mucosa and/or lips, perianal region, and genital mucosa occur.…”