Bone marrow involvement in cutaneous mastocytosis

BACKGROUND: Cutaneous mastocytosis is considered a relatively benign and indolent form of mast cell disease, which either ultimately regresses, remains stable or is only slowly progressive. Previously, it has been purported that no more than 60% of adult patients with cutaneous mastocytosis will have occult bone marrow involvement. OBJECTIVES: To investigate the frequency of bone marrow involvement in patients with mastocytosis but without systemic symptoms. METHODS: Bone marrow aspirate and trephine biopsy were performed in 13 consecutive patients with cutaneous mastocytosis attending our department. RESULTS: All but one of these patients had evidence of bone marrow involvement. Bone marrow cytogenetic abnormalities have been found in patients with cutaneous mastocytosis: all our patients who were analysed showed a normal karyotype. CONCLUSIONS: Bone marrow involvement is common in adults with cutaneous mastocytosis.     

Diffuse cutaneous mastocytosis with multiple cutaneous mastocytomas

A patient with diffuse cutaneous mastocytosis, present since birth, developed several cutaneous mastocytomas without any symptoms after puberty. Although the histological picture of the tumours, showing nuclear atypia, mitotic figures and varying metachromasia of the granules, raises suspicion of systemic involvement, this has not appeared so far. The absence of symptoms could be due to the synthesis of an abnormal secretory product by the mast cells, which is supported by the absence of oedema and dilated blood vessels in the presence of extensive degranulation and by the unusual ultrastructural picture of the mast cell granules, i. e. little electron density with the almost complete absence of lamellar and crystalline structures.     

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.     

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.     

Cutis laxa acquisita associated with cutaneous mastocytosis

A female child, a product of a nonconsanguineous parentage and normal pregnancy, was seen first at the age of 4 years. She had suffered from recurrent episodes of multiple, erythematous, confluent plaques and a few bullous lesions all over the body since infancy. The child was irritable but had no history of flushing, dyspnea, wheezing, or frequent diarrhea. Darier's sign was strongly positive and systemic examination did not reveal any abnormality. Routine laboratory investigations were normal and a skin biopsy specimen revealed an unremarkable epidermis and dense proliferation of round to spindle‐shaped mast cells which stained positive for metachromatic granules ( Fig. 1 ). With the diagnosis of urticaria pigmentosa, she was managed with antihistaminic drugs and the parents were advised to handle the child gently. She did not report for further follow‐up.

Figure 1 Open in figure viewer PowerPoint Photomicrograph of skin histology showing metachromatic granules (toluidine blue, ×40)     

Serine proteinases in human cutaneous mastocytosis

Summary The main chymotryptic and tryptic proteinases of human skin were found in high-salt extracts of human dermis. The levels of these enzymes were markedly increased in salt extracts of human cutaneous mastocytosis as compared to the levels found in extracts of involved skin from the same patients, human cutaneous hemangiomas, and normal human skin. These data suggest that the chymotryptic and tryptic proteinases of human skin are primarily of mast-cell origin.     

Fibrous mastocytoma in a patient with generalized cutaneous mastocytosis

A 57-year-old woman with cutaneous mastocytosis of 23 years duration developed a hyperpigmented abdominal plaque composed of confluent indurated papules that enlarged for a period of 1 year to 12 x 8 cm. Biopsy showed dermal infiltration by closely packed spindle-shaped mast cells, fibroblasts, collagen, and scattered lymphocytes, predominantly T-suppressor cells. Electron microscopy showed close contact between mast cells, fibroblasts, and lymphocytes. Piecemeal mast cell degranulation and extrusion of mast cell granules was seen, with rare mast cell granules in fibroblasts, and collagen fibers in peripheral and perinuclear endoplasmic reticulum of mast cells. the term Fibrous mastocytoma is suggested for this tumor-like dermal fibrosis, possibly induced by lymphokines.     

Comparison of mastocytosis with onset in children and adults

OBJECTIVE: To compare the incidence, symptomatology and course of mastocytosis with onset in childhood and in adults. DESIGN: Retrospective study of 101 patients with mastocytosis who were referred from 1980 to 1998. PATIENTS: Medical records of 65 cases of mastocytosis with onset in childhood and 36 in adulthood were analysed. The clinical course was assessed in a subgroup consisting of 33 subjects with childhood onset who were followed up until at least adolescence and 12 subjects with adult onset who were followed up for at least 10 years. RESULTS: The onset of the disease occurred before the age of 2 years in 50% and between the ages of 2 and 15 years in 14% of cases (childhood onset). In 36% of patients onset occurred at the age of 16 years and older (adult onset). An incidence peak of 60% was noted in the first year of life. Mast cell-mediated symptoms were not experienced by 21 of 36 adult onset mastocytosis patients nor by 27 of 65 childhood onset mastocytosis patients. Complete resolution was observed in five of 33 children. The majority of childhood onset cases (21 of 33) showed some improvement. Complete resolution was achieved in three of 12 adults. The majority of the remaining adults (eight of 12) showed no improvement. CONCLUSIONS: We confirm the incidence of onset of mastocytosis previously reported in the literature. We conclude that childhood onset mastocytosis is much less transitory than generally is assumed, although improvement occurs in the majority of cases. Symptomatology and clinical course of adult onset mastocytosis is less severe than suggested in the literature.     

Diffuse cutaneous mastocytosis: pseudoxanthomatous variant

Diffuse cutaneous mastocytosis is one of the extremely rare benign forms of mastocytosis that have varied clinical presentations. The pseudoxanthomatous variant is an extremely rare multinodular nonpigmented entity. Only two cases have been reported so far in the literature. We report a 21 year old female patient who had diffusely infiltrated skin with multiple papulo-nodular lesions resembling xanthomas and the classical histopathological features of mastocytosis.     

Atypical pachydermatous cutaneous course of mastocytosis

We describe the case of a 75-year-old man first seen in our department 32 years ago for generalized yellowish erythematous papular lesions along with an attack of pruritus, tachycardia, and flushing. A diagnosis of urticaria pigmentosa was proposed on the basis of these symptoms and the results of skin biopsy. Periodic follow-up in the intervening years included serial laboratory analyses, skin biopsy, radiological studies, bone scintigraphy, and ultrasound of the liver and spleen, with no remarkable findings. The symptoms caused by release of mediators decreased progressively. In one of the most recent visits, bone marrow aspirate and biopsy were performed, revealing multifocal infiltrates of typical CD117+ mast cells. Consequently, the hematology department diagnosed indolent systemic mastocytosis. A number of marked cutaneous changes were observed during the follow-up period: the skin currently appears thickened, indurated, redundant, and grayish, with a pachydermatous appearance. This represents an extremely rare form of cutaneous involvement in mastocytosis and only 1 case has been described in the literature.