Familial Cutaneous Mastocytosis

Abstract

Cutaneous mastocytosis appears to occur sporadically; however, familial inheritance has been reported in 50 families since the mid-1880s. We report four cases of telangiectasia macularis eruptiva perstans (TMEP) occurring in three generations of a family. Whereas most patients with TMEP manifest in adulthood, all of the members of this family developed initial lesions during childhood. This is the third documented instance of familial mastocytosis affecting members of three generations, and the first report of familial TMEP. Although the inheritance pattern is unknown, the presentation of disease in this family further supports the hypothesis of an autosomal dominant mode of transmission with incomplete penetrance.

Presentation of Telangiectasia Macularis Eruptiva Perstans as a Long-Standing Solitary Plaque Associated with Renal Carcinoma

“…Although most patients with TMEP present in adulthood, all the members of this family developed initial lesions during childhood. 16 In conclusion, the striking features of this case are the unusual presentation of TMEP as a single lesion, in the form of a well-defined plaque, and the detection on further investigation to rule out systemic mastocytosis of a clear cell renal carcinoma. The significance of the latter is not clear, since it may be considered to be either a chance association or perhaps an association with a malignant disorder, as is found with other types of mastocytosis.…”

Chronic, Brown-Red, Macular and Papular Rash in a Child

“…Medications such as topical corticosteroids, H1 and H2 antihistamines and cromolyn sodium, and psoralen ultraviolet A (PUVA) photochemotherapy have been found to improve symptoms [5]. In this patient, general recommendations (avoidance of physical and chemical stimuli such as scratching of the skin, sudden changes in temperature and codeine) were provided and treatment with antihistamines (dexchlorpheniramine maleate, 0.35 mg/kg given in divided doses in every 6 h) was started.…”

“…UP appears to occur sporadically; however, familial inheritance has been reported in 50 families since the mid1880s. But no pattern of inheritance has been identified [5].…”

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

“…The prognosis is favorable in most CM pediatric patients [Briley and Phillips, 2008]. While familial occurrence of CM is rare, pedigrees displaying both autosomal-recessive and -dominant inheritance with reduced penetrance of the cutaneous and SMs have been reported [Fowler et al, 1986;Hennekam and Beemer, 1992;Chang et al, 2001;Lappe et al, 2003]. Treatment is based on the avoidance of mast cell degranulators, including physical stimuli and chemical substances, and the use of H1 or H2 blockers or steroids, but novel therapeutic options are under evaluation [Hoffmann et al, 2008].…”