Two brothers and a sister and brother with the de Sanctis-Cacchione syndrome (xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism, and gonadal hypoplasia) are discussed. The syndrome is probably controlled by a single recessive autosomal gene. Porphyrins were not demonstrated in these patients.
REED WB, MAY SB, NICKEL WR. Xeroderma Pigmentosum With Neurological Complications: The de Sanctis-Cacchione Syndrome. Arch Dermatol. 1965;91(3):224–226. doi:10.1001/archderm.1965.01600090032005
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