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Phenotypic and microscopic description of a new case of Ermine phenotype
Author(s) -
Zarate Yuri A.,
Pacheco M. Cristina,
Bove Kevin E.,
Gorlin Robert,
Zhao Huiquan,
Hopkin Robert J.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32815
Subject(s) - phenotype , melanosome , microcephaly , biology , pathology , melanin , differential diagnosis , genetics , evolutionary biology , medicine , gene
We describe a new case of Ermine phenotype. The patient had the striking pattern of skin and hair involvement that characterize the condition, global developmental delay, growth retardation, microcephaly, and bilateral hearing loss. Results of extensive workup for several other neurologic, metabolic, mitochondrial, genetic and chromosomal conditions were normal. Microscopic examination demonstrated normal numbers of melanocytes and variable amounts of pigment depending on the degree of pigmentation in the region biopsied. Ultrastructure of melanosomes was abnormal suggesting a defect in melanin synthesis. Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness. Therefore, this should be included as an independent condition in the differential diagnosis. Additional phenotypic and pathologic descriptions are needed to better define this condition clinically, pathologically, and genetically. © 2009 Wiley‐Liss, Inc.