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Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia
Author(s) -
Salpietro Carmelo Damiano,
Briuglia Silvana,
Cutrupi Maria Concetta,
Gallizzi Romina,
Rigoli Luciana,
Dallapiccola Bruno
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.33017
Subject(s) - microcephaly , microtia , hearing loss , medicine , cutaneous mastocytosis , dermatology , consanguinity , conductive hearing loss , short stature , pediatrics , audiology , anatomy , pathology , disease , systemic mastocytosis
Mastocytosis refers to a heterogeneous group of rare disorders characterized by an abnormal accumulation of mast cells in one or more organ systems. Cutaneous mastocytosis (CM) is the most frequent form in children and is characterized by hyperpigmented macules or papules symmetrically distributed over the trunk, and less so over the limbs, neck, and scalp. Two published articles have reported on unrelated girls presenting with mastocytosis, microcephaly, hearing loss, and hypotonia. Based on the original observation, this disorder was defined as CM with short stature, conductive hearing loss, and microtia (OMIM 248910). Here we report on a girl with similar manifestations who corroborates the existence of this rare disorder. CM, microcephaly, microtia, and/or hearing loss are the minimal diagnostic criteria. All the known patients were sporadic, but parental consanguinity in the first case argues for a possible autosomal‐recessive inheritance. © 2009 Wiley‐Liss, Inc.