This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Dermatologic Disorders  • Pediatrics  • Congenital Malformations  • Diagnosis  • Dermatologic Disorders, Other  • Genetics  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

Two Cases That Provide Further Evidence of a Distinct Clinicogenetic Entity

M. Antonia González-Enseñat, MD; Asunción Vicente, MD; Pilar Poo, MD; Vicenç Catalá, PhD; M. Mar Pérez-Iribarne, PhD; Carme Fuster, PhD; Esther Geán, MD, PhD; Rudolf Happle, MD

Arch Dermatol. 2009;145(5):576-578.

Background  Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular, and skeletal defects. Recently it has been suggested that this phenotype originates from mosaic partial or complete trisomy 13. We report clinical and cytogenetic data for 2 cases.

Observations  A bizarre pattern of multiple leaflike macules was noted in 2 girls with mental deficiency. In patient 1, additional anomalies included syndactyly, clinodactyly, trichomegaly of the eyelashes, low frontal hairline, and several pale pink telangiectatic macules. In patient 2, epileptic seizures, dental malposition, oligodontia, preauricular fistulas, scoliosis, tethered cord, and syringomyelia were noted. A diagnosis of phylloid hypomelanosis was made in both patients. In both patients, blood lymphocytes showed a normal karyotype 46,XX; however, fibroblasts derived from lesional skin demonstrated tetrasomy of chromosome 13q21-qter in patient 1 and trisomy of 13q22-qter in patient 2.

Conclusions  These 2 cases lend further support to the concept that phylloid hypomelanosis is a distinct clinicogenetic entity that should no longer be confused with pigmentary mosaicism of the Ito type. From a comparison of our cytogenetic findings with those documented in previous articles, we infer that phylloid hypomelanosis is most likely related to the 13q region.

Author Affiliations: Departments of Dermatology (Drs González-Enseñat and Vicente), Neurology (Dr Poo), and Genetics (Drs Pérez-Iribarne and Geán), Hospital de Sant Joan de Déu, University of Barcelona; and Department of Cellular Biology, Physiology, and Immunology, Faculty of Medicine, Universidad Autónoma de Barcelona (Dr Fuster), and Prenatal Genetics Laboratory (Dr Catalá), Barcelona, Spain; and Department of Dermatology, Philipp University of Marburg, Marburg, Germany (Dr Happle).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?