Pseudoxanthomatous mastocytosis

A case of xanthelasmoidea (pseudoxanthomatous mastocytosis) occurring in a 50-year-old Iranian man is described. The patient had a large upper gastrointestinal haemorrhage.     

Nodular mastocytosis

Mastocytosis refers to a group of disorders characterized by the pathologic proliferation of mast cells. We present a 70-year-old white man with a rare presentation of nodular mastocytosis, characterized by disseminated nodular lesions, myelodysplastic syndrome, and a c-kit V560G receptor mutation. The patient presented to the clinic after initial presentation 6 months earlier, with ear pruritus, associated hearing loss, and widespread rash.     

Unmasking mastocytosis

Mastocytosis is a cutaneous disorder that may progress to a life-threatening, multi-organ systemic disease. Adults are more likely to experience systemic disease than children. A discussion of the disease process, treatment modalities, and practical strategies for patient care is presented.     

大疱性色素性荨麻疹

报告1例大疱性色素性荨麻疹。患儿女,11个月,3个月时患儿躯干、头部反复出现水疱,尼氏征阴性,同时伴有剧烈瘙痒,Darier征阳性。皮损组织病理检查显示表皮下水疱,大量炎性细胞浸润,Giemsa染色阳性。先后给予抗组胺药和糖皮质激素治疗,效果不明显,现口服色甘酸二钠,病情稳定。     

Childhood-onset mastocytosis

Mastocytoses are a group of rare diseases characterized, in most cases, by a benign proliferation and accumulation of mast cells in different tissues. In children, mastocytosis affects usually exclusively the skin and differs in many aspects from adult-onset mastocytosis. Except for diffuse cutaneous mastocytosis, which is an uncommon subtype of childhood-onset mastocytosis, involvement of the bone marrow or additional extracutaneous organs is rarely seen in children. The prognosis of childhood-onset mastocytosis is usually very good. Compared to adult patients who most commonly experience chronic-stable or slowly progressive disease, mastocytosis in children is mostly transient and self-limiting. In this review, we present and discuss the subtypes of childhood-onset mastocytosis, recent advances in the understanding of their pathogenesis as well as similarities and differences between adult- and childhood-onset mastocytosis.     

Systemic mastocytosis

Systemic mastocytosis associated with urticaria pigmentosa seems to be strikingly more common than previously assumed. The diagnosis can be established by the investigation of bone marrow sections, whereas bone marrow smears are less reliable. Some mediators are produced by the enhanced number of mast cells; telemethyl imidazole acetic acid is the most suitable mediator to calculate the size of the mast cell pool. Investigations like this might offer an alternative to the examination of bone marrow sections in future.     

Erythrodermic mastocytosis.

Erythrodermic mastocytosis is a rare variant of diffuse cutaneous mastocytosis in which the skin becomes red, thickened, and lichenified and has a doughy consistency with multiple small papules on its surface, giving a leathery appearance to the skin. In this report, I describe a curious case of erythrodermic mastocytosis that appears to be due to vasodilation rather than to mast cell infiltration of the skin. In my opinion, this case might be an example of generalized telangiectasia macularis eruptiva perstans. Results of all laboratory tests failed to demonstrate systemic mast cell involvement; therapy with a combination of H1 and H2 antihistamines plus disodium cromoglycate controlled the symptoms.     

Diffuse cutaneous mastocytosis

患儿男,7个月.主诉:反复全身起疹7个月.现病史:患儿出生后即在摩擦、搔抓后局部起白色风团,数小时消退,遗留色素沉着斑,未就诊.2009年11月中旬因头皮、躯干、四肢起红斑、水疱,疱壁坚实,融合后松弛,疱液清,破溃后呈片状糜烂面似烫伤样外观,而于2009年11月26日-12月3日在我院皮肤科首次住院.     

Pediatric mastocytosis.

The onset of mastocytosis occurs between birth and 2 years of age in approximately 55% of all cases; an additional 10% develop the disease before the age of 15 years. Mastocytosis in these age groups differs in many respects from mastocytosis that has its onset in adulthood. The typical presentation of pediatric-onset mastocytosis consists of cutaneous manifestations: either a solitary mastocytoma, urticaria pigmentosa, or, less commonly, diffuse cutaneous mastocytosis. Particularly in infants, bullous eruptions may occur. Mastocytosis in infants and children may involve internal organs, including the bone marrow and the gastrointestinal tract, although such manifestations appear to be less common in children than in adults. Plasma histamine levels may be elevated in pediatric-onset mastocytosis. Treatment usually involves the use of H1 and H2 antihistamines to control itching and to control the hypersecretion of gastric acid that may occur. The prognosis for children with mast cell disease is variable; approximately half of the children with urticaria pigmentosa may experience resolution of lesions and symptoms by adolescence.     

Familial cutaneous mastocytosis

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.