Multiple Pilomatricoma in Trisomy 9

Characterizing pilomatricomas in children: a single institution experience

“…Pilomatricomas usually occur as isolated lesions, but have been reported to occur in association with polyposiscolorectal carcinoma predisposition syndromes (Gardner syndrome, Familial adenomatosis polyposis syndrome [FAP, APC gene, MYH (MUTYH) gene], and β-catenin gene mutations) and myotonic muscular dystrophy (Steinert disease) [2,[6][7][8][9][10][11][12]. Less commonly, these tumors can occur in association with sarcoidosis, skull dysostosis, RubinsteinTaybi syndrome, Churg-Strauss syndrome, Turner syndrome, Soto syndrome, fronto-parietal baldness, gliomatosis cerebri and trisomy 9 [1,6,[13][14][15][16].…”

Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child

“…In the patient here described, mild mental retardation is associated with language disorder consisting of a typical pattern of speech impairment, restricted vocabulary that results in secondary manifestation due to callosal involvement, since structural anomalies of the corpus callosum are clearly implicated in critical aspects of language processing [Paul et al, 2003; Brown et al, 2005]. Another finding in our patient refers to pilomatricoma, a tumor of hair follicle matrix cells that has been reported in chromosomal and microdeletion syndromes such as Turner syndrome [Noguchi et al, 1999; Wood et al, 2008], trisomy 9 [Matsuura et al, 2002], Sotos syndrome [Tatton‐Brown et al, 2005; Gilaberte et al, 2008], Rubinstein–Taybi syndrome [Cambiaghi et al, 1994; Kalyoncu et al, 2006]. The whole clinical picture of the patient here described, as well as the evaluation through CGH‐array clearly excludes the syndromes above mentioned.…”

Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli

“…Rare multiple or familial pilomatrixomas have been described in conjunction with a variety of genetic disorders (Turner syndrome, gliomatosis cerebri and Trisomy 9), but consistent associations have been established with few, most notably myotonic dystrophy and Rubinstein–Taybi syndrome 2–9 . A broad pathologic spectrum of cystic lesions has been reported in association with Gardner syndrome, including hybrid cutaneous cysts with features of pilomatrixoma and epidermal (infundibular) cysts, focal matrical cornification within follicular cysts as well as single microscopically classic pilomatrixomas 10–13 .…”