FaCD Online Syndrome Fact Sheet

Last updated: 05 Aug 2008

Name: Pilomatrixoma, Familial Clustering of

Synonym: Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe

Mode of Inheritance: AD?/ multifact?

OMIM number: 132600

Genes

CTNNB1, mapped to 3p22-p21.3

Tumor features

pilomatrixoma

Comment

Familial (multiple) occurrence of this benign skin tumor, which usually appears in the head and neck region has been reported[1-3]. Their association with myotonic dystrophy (Steinert disease) has repeatedly been observed[4-6].

References

[1] Demircan M, Balik E. Pilomatricoma in children: a prospective study. Pediatr Dermatol 1997; 14(6):430-432.
[2] Hubbard VG, Whittaker SJ. Multiple familial pilomatricomas: an unusual case. Journal of cutaneous pathology 2004; 31(3):281-3.
[3] Karpuzoglu T, Elpek GO, Alpsoy E, Gelen T, Aksoy NH, Karpuzoglu G. Multiple familial pilomatrixomas. Journal of the European Academy of Dermatology and Venereology : JEADV 2003; 17(3):358-9.
[4] Graells J, Servitje O, Badell A, Notario J, Peyri J. Multiple familial pilomatricomas associated with myotonic dystrophy. Int J Dermatol 1996; 35(10):732-733.
[5] Berberian BJ, Colonna TM, Battaglia M, Sulica VI. Multiple pilomatricomas in association with myotonic dystrophy and a family history of melanoma. J Am Acad Dermatol 37[2], 268-269. 1997.
[6] Newman E, Hamshere MG, Alwazzan MA, Brook JD. Analysis of pilomatrixomas dystrophy. J Med Genet 1998; 35(suppl 1):S73.