Cutis Tricolor Parvimaculata in Two Patients with Ring Chromosome 15 Syndrome
| Autor: | Daniela Montanari, María del Carmen Boente, Cristina Bazan |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Microcephaly
Developmental Disabilities Ring chromosome Cutis Dermatology Café au lait spot Humans Medicine Abnormalities Multiple Ring Chromosomes Hypertelorism Pigmentation disorder Chromosomes Human Pair 15 Spots Mosaicism business.industry Cafe-au-Lait Spots Facies Infant Karyotype Syndrome Anatomy medicine.disease Failure to Thrive Child Preschool Pediatrics Perinatology and Child Health Female medicine.symptom business Pigmentation Disorders |
| Zdroj: | Pediatric Dermatology. 28:670-673 |
| ISSN: | 1525-1470 0736-8046 |
| DOI: | 10.1111/j.1525-1470.2011.01470.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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