Goltz Syndrome Combined with Triple X Syndrome, a Case Report

• Published in: The Cleft palate-craniofacial journal Vol. 61; no. 3; p. 534
• Main Authors: Sone, Itaru, Honda, Takayuki, Sakuraba, Minoru, Satoh, Kazuro, Kuwajima, Yukinori, Baba, Shunsuke, Wada, Yasunori
• Format: Journal Article
• Language: English
• Published: United States 01.03.2024
• Subjects: Chromosomes, Human, X; Cleft Palate; Female; Focal Dermal Hypoplasia - diagnosis; Focal Dermal Hypoplasia - genetics; Humans; Infant, Newborn; Male; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development; Syndactyly; Syndrome; Trisomy; facial morphology; genes; mental development; craniofacial morphology; chromosomes
• ISSN: 1545-1569
• DOI: 10.1177/10556656221141236

Goltz syndrome is a rare X-linked dominant multisystem disorder that presents with ectoderm and mesoderm-derived symptoms. Skin manifestations including congenital patchy skin aplasia, congenital nodular fat herniation, congenital hypo- or hyperpigmentation along Blaschko's lines, telangiectasia, and congenital ridged dysplastic nails are typical in this disorder. Almost all cases of Goltz syndrome correspond to female newborns and that hemizygosis makes the syndrome fetal in males. Triple X syndrome is a relatively common congenital disorder that presents with mild to no symptoms in the developmental and psychiatric realm. The patient reported here was born with multisystem anomaly affecting the eyes, craniofacial region, cardiovascular system, skin, and limbs. A G-banding chromosomal study revealed 47, XXX. She was diagnosed with Goltz syndrome owing to her distinctive skin manifestations. The congenital cervical skin defect healed with conservative treatment. The facial cleft, cleft lip-palate, and syndactyly were successfully treated with multiple surgical treatments. The combination of triple X syndrome and Goltz syndrome is very rare. We describe the expression of presenting with both syndromes simultaneously.