Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

Abstract

Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.

Inbreeding depression and IQ in a study of 72 countries

“…Iceland exhibits a high degree of socioeconomic heterogeneity, so the findings lend support to the theory that increases in homozygosity can enhance fertility through a variety of physiological and bio-behavioral mechanisms, provided they are relatively mild (Helgason, Pálsson, Guðb-jartsson, Kristjánsson, & Stefánsson, 2008). Consanguineous mating is known to increase the incidence of physical deformities and diseases, including childhood blindness (Baghdassarian & Tabbara, 1975), neonatal diabetes mellitus (Brickwood et al, 2003) and limb malformations (Breuning et al, 2000). A study by Jaber, Halpern, and Shohat revealed that the overall incidence of congenital malformations was 2.5 times higher amongst the offspring of consanguineous mating when compared to the offspring of non-consanguineous mating (1998).…”

Diagnosis and Treatment of Digitocutaneous Dysplasia, a Rare Infantile Digital Fibromatosis: A Case Report

“…Fig. 7 Cryotherapy on the third toe of the right foot Table 3 Histochemical findings in fibromas associated with digitocutaneous dysplasia Inclusion bodies [11,27] Alpha-smooth actin muscular [12,27] Vimentin [6] Desmin CD10 [12] …”

Digitocutaneous dysplasia

“…Although the fibromas associated with DCD are known to recur after operation, they have been reported to spontaneously regress-a feature also seen in IDF. 2,4 Adult women with DCD may be left with vestigial, linear remnants of the fibromas on their fingertips. 3 Malignant transformation of fibromas does not appear to occur in either IDF or DCD.…”