Two Cases of Pilomatrixoma in Turner’s Syndrome

Abstract

Multiple and familial cases of pilomatrixomas have been reported in myotonic dystrophy. We report 2 cases of pilomatrixoma in Turner’s syndrome. Between 5 and 19 years of age, 1 patient developed 6 pilomatrixomas including atypical occurrences on the chest and the posterior aspect of the leg. This is the first report of multiple pilomatrixomas in Turner’s syndrome.

Turner's syndrome in dermatology

“…75 Although hypohidrosis is well documented in growth hormone deficiency, growth hormone levels are usually within normal range in TS. 134,135 Other rare associations include cases of lichen sclerosus et atrophicus, 136 type II hereditary angioedema, 137 neonatal lupus erythematosus, 138 widespread lichen planus, 139 atypical angiokeratoma corporis diffusum (not in conjunction with Fabry's disease), 140 multiple pilomatrixomas, 141 basal cell nevus syndrome, 142 neurofibromatosis I, 143 and prune belly syndrome. 144 Webbing of the hands and axillae have also been reported.…”

Pilomatricoma in childhood: a retrospective study from three European paediatric centres

“…The gene responsible for the disease is the DMPK (Myotonic Dystrophy Protein Kinase) and plays an important role in calcium homeostasis and signal transduction. Calcium, in the epidermal cells, influences the cellular differentiation; when the calcium concentration is low, there is a higher cell proliferation rate but lower terminal differentiation [28]. This concept might explain the higher frequency of pilomatricoma in myotonic dystrophy patients [3].…”

Multiple Pilomatricoma in Trisomy 9

“…However, myotonic dystrophy was not observed in the present case. Multiple pilomatricoma has been reported to be associated with Gardner's syndrome [6], Rubinstein-Taybi syndrome [7] and Turner's syndrome [8]. There has been only 1 reported case [9] of multiple pilomatricoma in trisomy 9 other than the present case.…”

“…Urinalysis, complete blood cell counts and routine blood chemical analysis were within normal limits. No abnormalities were found on X-ray films of [8].ishi(9)(p10)(wcp9+) (fig. 2).…”