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Mastocytosis in children and adults: clinical disease heterogeneity.

Lange M, Nedoszytko B, Górska A, Zawrocki A, Sobjanek M, Kozlowski D - Arch Med Sci (2012)

Bottom Line: The condition consists of a heterogeneous group of disorders characterized by a pathological accumulation of mast cells in tissues including the skin, bone marrow, liver, spleen and the lymph nodes.The heterogeneity of clinical presentation of mastocytosis is typically related to the tissue mast cell burden, symptoms due to the release of mast cell mediators, the type of skin lesions, the patient's age at the onset and associated haematological disorders.Therefore, a multidisciplinary approach is recommended.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland.

ABSTRACT
Mastocytosis is a clonal disease of the hematopoietic stem cell. The condition consists of a heterogeneous group of disorders characterized by a pathological accumulation of mast cells in tissues including the skin, bone marrow, liver, spleen and the lymph nodes. Mastocytosis is a rare disease which occurs both in children and adults. Childhood onset mastocytosis is usually cutaneous and transient while in adults the condition commonly progresses to a systemic form. The heterogeneity of clinical presentation of mastocytosis is typically related to the tissue mast cell burden, symptoms due to the release of mast cell mediators, the type of skin lesions, the patient's age at the onset and associated haematological disorders. Therefore, a multidisciplinary approach is recommended. The present article provides an overview of clinical symptoms, diagnostic criteria and treatment of mastocytosis to facilitate the diagnosis and management of mastocytosis patients in clinical practice.

No MeSH data available.


Related in: MedlinePlus

Maculopapular cutaneous mastocytosis/urticaria pigmentosa
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Figure 0001: Maculopapular cutaneous mastocytosis/urticaria pigmentosa

Mentions: This classification is detailed with respect to clinical appearance, the course and prognosis of different disease entities. From a dermatological perspective, the authors propose to consider maculopapular, plaque and telangiectatic forms as separate entities. They underline that the maculopapular form occurring in children as well as in adults rarely resolves spontaneously, in contrast to the plaque form, which usually disappears by puberty [21, 23]. Maculopapular CM and mastocytoma are reported to be the most common clinical types (47-75% and 17-51%, respectively) in contrast to DCM, which is a rare finding (1-5%) [5, 20–24]. As far as morphology of skin lesions is concerned, very distinct presentations of CM have been observed. MPCM is characterized by small, brown macules and papules (Figure 1). This type is the most common clinical manifestation of adult onset CM. The plaque form consists of slightly tan-to-orange, flat, slightly elevated plaques up to several centimetres in diameter (Figure 2). The condition usually manifests in infancy. Telangiectatic form (telangiectasia macularis eruptiva perstans) is a rare clinical presentation occurring mainly in adults, which consists of red and brown telangiectatic macules. This form is considered to be limited to the skin. However, systemic involvement also may occur [20, 23]. Mastocytoma is a solitary nodular lesion which may be present at birth or appears within the first 3 months of life and resolves spontaneously with age (Figure 3). Multiple nodular lesions are very rare [20–24]. Diffuse cutaneous mastocytosis is the most severe form of CM, which presents as erythroderma involving almost the entire skin [20, 23, 24] (Figure 4). In this form the clinical features occur at birth or in early infancy. Widespread haemorrhagic blisters may be the first clinical presentation of DCM. Bullous lesions do not represent a specific subset of the CM phenotype [6, 20]. Bullae can occur in all forms of CM, usually in infants, and are related to mast cell load in the skin. The cases in which bullae are a prominent feature are more likely to be associated with systemic involvement and a higher risk of anaphylactic reaction [20, 25, 26]. Due to a widespread and heavy mast cell load in the entire skin, children with DCM may have flushing, itching, hypotension, anaphylactic shock, diarrhoea and gastrointestinal bleeding [20, 21, 27]. Systemic involvement and a fatal outcome have been reported in some DCM cases [25–27]. Blistering and severe mast cell related symptoms have a tendency to decrease or even disappear in time. A generalized thickening of the skin with leather-grain appearance and the pronounced Darier's sign are prominent features of the disease in teenagers and adults with DCM [24, 28].


Mastocytosis in children and adults: clinical disease heterogeneity.

Lange M, Nedoszytko B, Górska A, Zawrocki A, Sobjanek M, Kozlowski D - Arch Med Sci (2012)

Maculopapular cutaneous mastocytosis/urticaria pigmentosa
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3400919&req=5

Figure 0001: Maculopapular cutaneous mastocytosis/urticaria pigmentosa
Mentions: This classification is detailed with respect to clinical appearance, the course and prognosis of different disease entities. From a dermatological perspective, the authors propose to consider maculopapular, plaque and telangiectatic forms as separate entities. They underline that the maculopapular form occurring in children as well as in adults rarely resolves spontaneously, in contrast to the plaque form, which usually disappears by puberty [21, 23]. Maculopapular CM and mastocytoma are reported to be the most common clinical types (47-75% and 17-51%, respectively) in contrast to DCM, which is a rare finding (1-5%) [5, 20–24]. As far as morphology of skin lesions is concerned, very distinct presentations of CM have been observed. MPCM is characterized by small, brown macules and papules (Figure 1). This type is the most common clinical manifestation of adult onset CM. The plaque form consists of slightly tan-to-orange, flat, slightly elevated plaques up to several centimetres in diameter (Figure 2). The condition usually manifests in infancy. Telangiectatic form (telangiectasia macularis eruptiva perstans) is a rare clinical presentation occurring mainly in adults, which consists of red and brown telangiectatic macules. This form is considered to be limited to the skin. However, systemic involvement also may occur [20, 23]. Mastocytoma is a solitary nodular lesion which may be present at birth or appears within the first 3 months of life and resolves spontaneously with age (Figure 3). Multiple nodular lesions are very rare [20–24]. Diffuse cutaneous mastocytosis is the most severe form of CM, which presents as erythroderma involving almost the entire skin [20, 23, 24] (Figure 4). In this form the clinical features occur at birth or in early infancy. Widespread haemorrhagic blisters may be the first clinical presentation of DCM. Bullous lesions do not represent a specific subset of the CM phenotype [6, 20]. Bullae can occur in all forms of CM, usually in infants, and are related to mast cell load in the skin. The cases in which bullae are a prominent feature are more likely to be associated with systemic involvement and a higher risk of anaphylactic reaction [20, 25, 26]. Due to a widespread and heavy mast cell load in the entire skin, children with DCM may have flushing, itching, hypotension, anaphylactic shock, diarrhoea and gastrointestinal bleeding [20, 21, 27]. Systemic involvement and a fatal outcome have been reported in some DCM cases [25–27]. Blistering and severe mast cell related symptoms have a tendency to decrease or even disappear in time. A generalized thickening of the skin with leather-grain appearance and the pronounced Darier's sign are prominent features of the disease in teenagers and adults with DCM [24, 28].

Bottom Line: The condition consists of a heterogeneous group of disorders characterized by a pathological accumulation of mast cells in tissues including the skin, bone marrow, liver, spleen and the lymph nodes.The heterogeneity of clinical presentation of mastocytosis is typically related to the tissue mast cell burden, symptoms due to the release of mast cell mediators, the type of skin lesions, the patient's age at the onset and associated haematological disorders.Therefore, a multidisciplinary approach is recommended.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Poland.

ABSTRACT
Mastocytosis is a clonal disease of the hematopoietic stem cell. The condition consists of a heterogeneous group of disorders characterized by a pathological accumulation of mast cells in tissues including the skin, bone marrow, liver, spleen and the lymph nodes. Mastocytosis is a rare disease which occurs both in children and adults. Childhood onset mastocytosis is usually cutaneous and transient while in adults the condition commonly progresses to a systemic form. The heterogeneity of clinical presentation of mastocytosis is typically related to the tissue mast cell burden, symptoms due to the release of mast cell mediators, the type of skin lesions, the patient's age at the onset and associated haematological disorders. Therefore, a multidisciplinary approach is recommended. The present article provides an overview of clinical symptoms, diagnostic criteria and treatment of mastocytosis to facilitate the diagnosis and management of mastocytosis patients in clinical practice.

No MeSH data available.


Related in: MedlinePlus