How to cite this article: Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B. 2009. Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. Am J Med Genet Part A 149A:2270–2273.
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2270–2273, October 2009
How to Cite
Salpietro, C. D., Briuglia, S., Cutrupi, M. C., Gallizzi, R., Rigoli, L. and Dallapiccola, B. (2009), Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. Am. J. Med. Genet., 149A: 2270–2273. doi: 10.1002/ajmg.a.33017
- Issue published online: 24 SEP 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 14 JUN 2009
- Manuscript Received: 30 MAR 2009
- DYSCERNE—A European Network of Centres of Expertise for Dysmorphology
- European Commission Executive Agency for Health and Consumers (DG Sanco)
- cutaneous 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.