title: Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.
abstract: 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.
authors.affiliation: Department of Pediatric Sciences, University of Messina, Messina, Italy.
authors.forename: Carmelo Damiano
authors.initials: CD
authors.lastname: Salpietro
authors.forename: Silvana
authors.initials: S
authors.lastname: Briuglia
authors.forename: Maria Concetta
authors.initials: MC
authors.lastname: Cutrupi
authors.forename: Romina
authors.initials: R
authors.lastname: Gallizzi
authors.forename: Luciana
authors.initials: L
authors.lastname: Rigoli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D034701:Mastocytosis, Cutaneous / Q000150:complications* / Q000175:diagnosis; D008831:Microcephaly / Q000150:complications* / Q000175:diagnosis; D009123:Muscle Hypotonia / Q000150:complications / Q000175:diagnosis