Neonatal intestinal obstruction from solitary intestinal fibromatosis.

Solitary intestinal fibromatosis (SIF) is a very rare condition, with only 13 cases reported. We present a new case of SIF causing neonatal intestinal obstruction and review the literature on this condition. SIF appears to be a condition of infancy and carries a very good prognosis after segmental resection.

Collagenous and elastotic marginal plaques of the hands.

A 49-year-old woman presented with an asymptomatic indurated linear plaque extending from the medial surface of the right thumb along the junction of the dorsal and palmar skin of the hand onto the lateral aspect of the index finger. The left hand showed a similar but less extensive plaque. A skin biopsy showed an acellular zone in the reticular dermis composed of thickened bundles of collagen haphazardly arranged, some perpendicular to the epidermis, admixed with elastic fibres and amorphous basophilic elastotic material. Granular calcium deposits were identified, particularly within degenerate collagen bundles. These clinical and histological features are diagnostic of collagenous and elastotic marginal plaques of the hands, a slowly progressive but largely asymptomatic condition. Actinic degeneration and chronic pressure have been proposed as aetiological agents, but our patient did not exhibit marked actinic degeneration and had no history of chronic occupational pressure.

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3.

We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes.

Dermatomyofibroma: a report of two cases, one occurring in a child.

Dermatomyofibroma is a recently described plaque-like dermal tumour composed of myofibroblasts that usually presents around the shoulder, axilla and posterior neck, often in young adult females. Here, we present two cases, one from the posterior axilla of a 33-year-old female and one from the posterior neck of a 7-year-old male. Both were clinically red-brown lesions with histological and immunohistochemical features diagnostic of dermatomyofibroma. There was no evidence of aggressive biologic behaviour with 3 months and 2 months follow up, respectively. While the majority of dermatomyofibromas present in postpubescent females, the 7-year-old male exemplifies a subgroup occurring in male children which appears to show a particular predilection for the posterior neck.