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Cutis Tricolor Parvimaculata in Two Patients with Ring Chromosome 15 Syndrome
Author(s) -
Boente María del Carmen,
Bazan Cristina,
Montanari Daniela
Publication year - 2011
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01470.x
Subject(s) - cutis , microcephaly , dermatology , locus (genetics) , karyotype , genetics , papule , medicine , chromosome , biology , pathology , gene , lesion
Two unrelated girls presented with multiple disseminated, paired, small café‐au‐lait spots and hypopigmented macules, suggesting didymosis (twin spotting). The girls also had growth retardation, microcephaly, hypertelorism, triangular facies, and a 46,XY, r(15) karyotype. The term cutis tricolor parvimaculata has been proposed to describe a twin spot phenomenon characterized by small, paired hypochromic and hyperchromic macules on a background of normal intermediate‐pigmented skin. It has been hypothesized that the underlying gene locus of this phenomenon is a hot spot for postzygotic recombination, resulting in multiple pigmentary twin spots. Future clinical research may show whether analogous “simple” twin‐spot phenotypes in the form of cutis tricolor parvimaculata may be considered a further cutaneous sign of the ring chromosome 15 syndrome.