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Clin Genet 2001: 59: 134–135Printed in Ireland. All rights reser6ed
Letter to the Editor
Four half-siblings with infantilemyrofibromatosis: a case forautosomal-recessive inheritance
To the Editor:Infantile myofibromatosis (IM) is a heterogenousgroup of rare fibromatoses in childhood manifest-ing as nodules in the skin, muscle, viscera, bone,and subcutaneous tissue. The prognosis dependson the degree of visceral involvement, and com-plete spontaneous regression is possible. The etiol-ogy of the disorder is unknown. Although mostreported cases seem to be sporadic, several familieswith IM in more than 1 family member have alsobeen reported. Although an autosomal-dominantinheritance seems to be implicated in some reports,an autosomal-recessive mode of inheritance seemsto be supported by other studies (1–6).
We report the development of IM in 4 half-sib-lings, the largest reported number of affected sib-lings, where the family pedigree seems to supportan autosomal-recessive inheritance of this rare dis-order.
A healthy 37-year-old woman, married to herfirst-degree cousin, had 4 children, 3 of whom (2sons and 1 daughter) were diagnosed to have IM –confirmed by histopathological studies. Some le-sions did recur and 1 of the siblings also developedintra-orbital and intra-cranial myofibromas thatrequired surgery. Both parents were healthy andtheir siblings, as well as their siblings’ offspring,were healthy and have never had similar soft tissuelesions. After a divorce, the woman married herprevious husband’s half-brother (from the samefather), who was also healthy. Their first two chil-dren were unaffected, but the third child, who wasfemale, also developed myofibromatosis.
The horizontal inheritance pattern of IM in 4children in that family, the absence of verticalpattern or sex predilection, the consanguineousmarriages of the mother with 2 half-brothers, andthe absence of symptoms in the mother and bothhusbands make a strong case for an autosomal-re-cessive mode of inheritance in this family. It ispossible, however, that either parent, currentlyasymptomatic, might have had neonatal lesionsthat spontaneously regressed, thus supporting an
autosomal-dominant inheritance, but this was de-nied by their own parents. Furthermore, as thedisease ran a severe course in the affected children,it would be very unlikely in the case of autosomal-dominant transmission to have a very benign self-resolving condition in one of the parents of theseseverely affected children.
A literature review revealed 7 additional familieswith IM in more than 1 family member. An auto-somal-recessive mode of inheritance seemed likelyin five previous reports, totaling 7 pairs of siblings,with consanguinity in 1 family (2–6). Anotherstudy of IM in an infant and her father suggestedan autosomal-dominant pattern; however, it is un-known if the marriage was consanguineous or ifthe father was himself the product of a consan-guineous marriage (1). In another report with 2affected half-sisters, autosomal-dominant inheri-tance with variable penetrance was implicated (1,7). The occurrence of IM in an identical twinwhose co-twin remained asymptomatic cannot beexplained without either variable penetrance or theeffect of exogenous factors on an underlying ge-netic susceptibility to develop IM (8).
Until the discovery of the underlying geneticanomaly for IM, when DNA studies may be usedto diagnose the condition and also to provideinformation on the mode of transmission, the pedi-gree of the family we report adds more support toan autosomal-recessive mode of inheritance forthat condition. The need for a complete evaluationof the siblings of an affected child cannot beoveremphasized, nor can the need for providingthe family with adequate genetic counseling.
Hassib Narchi
References
1. Jennings TA, Duray PH, Collins FS, Sabetta J, EnzingerFM. Infantile myofibromatosis. Evidence for an autosomal-dominant disorder. Am J Surg Pathol 1984: 8: 529–538.
2. Venencie PY, Bigel P, Desgruelles C, Lortat-Jacob S, DufierJL, Saurat JH. Infantile myofibromatosis. Report of twocases in one family. B J Dermatol 1987: 117: 255–259.
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Letter to the Editor
3. Bracko M, Cindro L, Golouh R. Familial occurrence ofinfantile myofibromatosis. Cancer 1992: 69: 1294–1299.
4. Bartlett R, Otis R, Laasko A. Multiple congenital neo-plasms of soft tissue. Cancer 1961: 14: 913–920.
5. Baird P, Worth A. Congenital generalised fibromatosis: anautosomal recessive condition? Clin Genet 1976: 9: 488–494.
6. Chung EB, Enzinger FM. Infantile myofibromatosis. Can-cer 1981: 48: 1807–1818.
7. Hower J, Gobel F, Ruttner J, Wurster K. Familiaere kon-genitale generalisierte Fibromatose bei zwei Halbschwest-ern. Schweiz Med Wschr 1971: 101: 1381–1385.
8. Soper JR, De Silva M. Infantile myofibromatosis: a radio-logical review. Pediatr Radiol 1993: 23: 189–194.
Correspondence:Hassib Narchi, MD, FRCP, FRCPCHPediatric DepartmentSandwell General HospitalLyndonWest Bromwich, B 71 4HJUnited KingdomTel: +44 121 607 3471Fax: +44 121 607 3596E-mail: [email protected]
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