I am currently studying pediatric dermatology and i came across "Mastocytosis syndromes", couple of hours back and so, will include it in my differentials Differentials 1) cradle cap 2) Diffuse cutaneous mastocytosis ************************************** Xtra Edge on Diffuse cutaneous Mastocytosis Childhood mastocytosis is distinct from adult mastocytosis and has three clinical forms: 1. Solitary mastocytoma (20% individual lesion(s) typically on distal extremities 2. UP : generalized lesions over trunk 3. Diffuse cutaneous mastocytosis: erythrodermic infant with a boggy or doughy skin Synonyms Bullous mastocytoma, bullous UP, bullous mastocytosis. EPIDEMIOLOGY Age By age 2 years (55%), 2 to 15 years (10%). Gender M = F Incidence 1 in 8000 children. Prevalence 20000 cases estimated in the United States. Genetics Reported familial cases, but majority are sporadic. HISTORY In children,mastocytosis typically begins before age 2 with one to many scattered cutaneous lesions. The lesions may be flat or slightly raised but have a tendency to become red and form an urticarial wheal or bullae with gentle rubbing,exercise, hot baths, or histamine-releasing drugs (NSAIDs, alcohol, dextran, polymyxin B, morphine, codeine). Children rarely have systemic symptoms, but with extensive cutaneous involvement, a flushing episode may be accompanied by headache, diarrhea, wheezing, or syncope. Diffuse cutaneous mastocytosis presents as a diffusely erythrodermic infant with a boggy ordoughy appearance. PHYSICAL EXAMINATION Skin Findings: Type Macule/papule, urticarial wheals/ plaques or bullae when gently stroked (Darier’s sign). Color Reddish-brown hyperpigmented color. Size 1 mm to several centimeters. Number Solitary lesions or multiple (hundreds). Distribution Trunk, extremities, neck > scalp, face, palms, soles,mucous membranes. DIFFERENTIAL DIAGNOSIS The differential diagnosis for mastocytosis includes urticaria, insect bites, bullous impetigo, viral infection, lentigines, café au lait macules, JXG, nevi, linear IgA disease, other autoimmune bullous dermatoses. LABORATORY EXAMINATIONS Dermatopathology Accumulation of mast cells in the dermis. Mast cell infiltrates may be sparse (spindle-shaped mast cells) or dense (cube-shaped mast cells). Toluidine blue, Giemsa and Leder stains, or monoclonal anti-bodies to tryptase and CD117 (KIT) can help identify tissue mast cells. Serum [FONT=&] α[/FONT]-Tryptase levels are elevated in symptomatic or asymptomatic patients with systemic mastocytosis. [FONT=&]β [/FONT]-Tryptase is elevated in patients with anaphylaxis related or unrelated to mastocytosis. Total ([FONT=&]α[/FONT] and [FONT=&]β [/FONT]) serum tryptase levels can be correlated with the extent of mast cell disease in patients. More than 75 ng/mL total serum tryptase indicates definite systemic involvement, whereas only 50% of patients with levels between 20 and 75 ng/mL have systemic disease. Urine Patients with systemic mastocytosis or extensive cutaneous involvement may have increased 24-hour urinary histamine or histamine metabolite excretion. Of note, foods with high histamine content (spinach, eggplant, cheese, red wine) will artificially elevate urinary histamine. Bone Marrow Biopsy In bone marrow biopsies of children with UP, 18% can have mast cell infiltration. MANAGEMENT Solitary mastocytosis and UP cutaneous lesions self-resolve and need no treatment. Moderate sunlight exposure can help diffuse skin lesions resolve. Patients with numerous lesions or diffuse cutaneous mastocytosis should be counseled to avoid potential mast cell degranulating agents: aspirin, NSAIDs, codeine, opiates, procaine, alcohol, polymyxin B sulfate, radiographic dyes, ketorolac, Toradol, scopolamine, systemic lidocaine, D-tubocurarine, metocurine, etomidate, thiopental, succinylcholine hydrochloride, enflurane, isoflurane, gallamine, decamethonium, pancuronium, hot baths, vigorous rubbing after baths or showers, tight clothing, and extremes of temperature. Antihistamines may be helpful in mastocytosis. Second-generation H1-blockers (cetirizine,loratadine, and fexofenadine) may work better than first-generation H1-blockers (diphenhydramine, hydroxyzine HCl). Ketotifen fumarate or doxepin can be potent H1-blockers used in conjunction with H2-blockers. In resistant cases, H2-blockers (cimetidine, ranitidine, famotidine, or nizatidine) can be used in combination with H1-blockers. Other medications that have been helpful for mastocytosis include oral cromolyn sodium,PUVA, topical, intralesional or systemic steroids, cyclosporine, or interferon[FONT=&]α[/FONT]-2b. Symptomatic patients with mastocytosis should carry an epinephrine pen because severe allergic reactions with anaphylaxis and hypotension can occur. Additional diagnostic evaluation should be performed in patients with evidence of further organ system involvement, such as, GI bleeding, abdominal pain, enlarged liver or spleen, bone pain, or blood abnormalities. ref - color atlas and synopsis of ped dermat. ****************************************************************************** the reason i risked copyright and posted this is 1) it may help somebody who is interested 2) it's not enought to recognise a pattern or know a name of rare disease ( my mom knows names of a lot of diseases and she is not a doc).....(-:
