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July 1978

Infant With Abnormal Pigmentation, Malformations, and Immune Deficiency

Author Affiliations

From the Genetics Unit, Children's Service and Department of Pathology, Massachusetts General Hospital (Drs Alper and Holmes), and the Departments of Pediatrics (Dr Ment) and Pathology (Dr Sirota) and Center for Human Genetics (Drs Alper and Holmes), Harvard Medical School, Boston.

Arch Dermatol. 1978;114(7):1043-1044. doi:10.1001/archderm.1978.01640190031010

• An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.

(Arch Dermatol 114:1043-1044, 1978)