Skin , STD & Leprosy


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Vidula Patel, Sunanda Mahajan, Vidya Kharkar, Uday Khopkar


An 11month old female child presented to us with red raised evanescent pruritic lesions all over the body since 3 months. On enquiry, the mother gave history that the red raised lesions persisted for few minutes and subsided with hyperpigmentation. The pruritus was aggravated by minor trauma and contact with water. There was no history of chronic fever, weight loss, recurrent infections, diarrhoea, flushing. Past history and family history was insignificant.

Examination revealed multiple hyperpigmented macules distributed on the trunk, upper limbs, lower limbs, face. Erythematous, edematous plaques (wheals) were present at few sites on the trunk. Darier's sign i.e. urtication of the hyperpigmented macule on stroking was demonstrated. Dermographism i.e urtication of normal skin was also present. There was no hepatosplenomegaly.

Fig. 1a	Fig. 1b
Fig. 2

The investigations revealed a normal hemoglobin and WBC count. Ultrasonography of abdomen did not reveal any organomegaly. Histopathology of the hyperpigmented macule showed an infiltrate predominantly made up of round to oval cells with a dark blue staining nucleus resembling fried eggs in the upper dermis and around the vessels. Giemsa stain stained these cells bluish green. Bone marrow biopsy showed few marrow particles and scattered cells with few cells of erythroid and myeloid series. The smear has a bluish tinge but no evidence of increased number or abnormal mast cells.

Fig 3.	Fig 4.
Fig 5.

What is your diagnosis?

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Answer :

This is a case of Urticaria pigmentosa which is a benign cutaneous form of mastocytosis After the pediatricians ruled out any internal organ involvement, the patient was treated with syrup Cyprohepatadine and calamine lotion. She responded to the same with reduced itching and wheal formation. The mother was advised about avoidance of trauma and other aggravating factors.

Discussion

Mastocytosis is a condition characterized by mast cell hyperplasia in the bone marrow, liver, spleen, G.I.T and the skin.(1)

Mastocytosis is divided into distinct clinicopathologic entities based on clinical presentation, pathologic findings, and prognosis. The Consensus Revised Classification for mastocytosis is as follows:(2)

1. Indolent Mastocytosis- which includes the following
   
   • Cutaneous disease
     
   • Malabsorption
     
   • Bone marrow involvement
     
   • Skeletal disease
     
   • Hepatosplenomegaly
     
   • Lymphadenopathy
     
   
   
2. Hematologic disorder
   
   • Myeloproliferative
     
   • Myelodysplastic
     
   
   
3. Aggressive -
   
   • Lymphadenopathic mastocytosis and eosinophilia
   
   
4. Mastocytic leukemia
   
   
5. Mastocytic leukemia
   
   
   • Mastocytoma, Generalized cutaneous mastocytosis, Urticaria pigmentosa, Telangiectasia macularis eruptiva perstans, Diffuse cutaneous mastocytosis
   
   Clinical Features -
   
   Urticaria pigmentosa is the most common manifestation of mastocytosis in children as well as adults. It is seen in over 90% of patients with indolent mastocytosis and less than 50% of patients with systemic involvement. It is characterized by small, yellow- tan to reddish brown macules or slightly raised papules all over the body sparing the palms, soles, scalp and face. Mild trauma like rubbing or scratching the lesion produces urtication and erythema of the macules known as Darier's sign. Pruritus may be exacerbated by change in temp, friction, ingestion of hot beverages or spicy foods. These patients may develop gastric hypersecretion due to elevated histamine with gastritis and peptic ulcer disease. They sometimes experience flushing or vascular collapse provoked by alcohol, aspirin, iodinated contrast media, stings, exercise or infections. Significant hepatic, splenic or bone marrow invovement are rarely seen in children3,4 but are more common in cases with associated systemic involvement.
   
   Investigation
   
   
   • The diagnosis of urticaria pigmentosa is suspected clinically and confirmed by histopathological studies. Mast cells are easily picked up on routine H & E stain.Metachromatic stains like Giemsa and toludine blue highlight the granules in these cells.
     
     
   • If the patient has peripheral blood abnormalities, hepatosplenomegaly or lymphadenopathy then bone marrow aspiration and biopsy is advised to rule out associated hematological disorders.Additional studies like bone scan, small bowel X rays, endoscopy, CT scan are carried out according to clinical suspicion of extent of involvement.
     
   
   
   Treatment -
   
   
   • Trigger factors like friction, massaging, pressure, physical exertion, emotional stress and mast cell degranulating agents like aspirin, NSAIDS, morphine, codeine, alcohol & radiographic contrast dyes, polymyxin B, thiamine, Dextran should be avoided.The main objective of treatment is to control mast cell mediator induced symptoms which is achieved by H1 receptor antagonists like Hydroxyzine, loratidine, doxepin. If relief is inadequate, H2 blockers like ranitidine are added.
     
     
   • Mast cell stabilizers like disodium cromoglycate which inhibit the degranulation of mast cells are more beneficial for GI complaints. Pruritus may be relieved but whealing is unaffected. The dose is as follows,
     
     

     20mg/kg/d - upto 2 years of age

     100mg q.i.d - 2 to 12 yrs

     
     
     
   • Nifedepine elevates mast cell threshold for degranulation and has been used in adults in the dose of 10 mg tds.
     
     
   • Ketotifen has dual properties of mast cell stabilisation & H1 antagonism and hence relieves pruritus & whealing
     
     
   • Methoxsalen with long wave UVA radiation (PUVA) can lead to symptomatic relief though the response is slow & 1-2 months therapy is required, relapses can occur after 3-6 months once therapy is stopped (5)
     
     
   • Patients with associated hematological disorders are treated according to the specific hematological abnormality. INFalpha2b has been used for the aggressive forms with mixed response. Splenectomy may improve survival in some cases.Radiotherapy is useful in refractory bone pain
     
   
   
   Prognosis -
   
   The prognosis for childhood onset UP is very good with more than 50% cases clearing spontaneously by the teenage6. Late onset urticaria pigmentosa i.e.onset after the first decade persists in 90% of cases. Only 10-20% may develop systemic mastocytosis, but hematological malignancies are rare.
   
   References -
   
   1. The mastocytosis syndrome. Fitzpatrick's dermatology in general medicine, Editors Irwin M Freedberg, Arthur Z Eisen, Klaus Wolff, K Frank Austen. 5th edition, McGraw-Hill, New York, 1999.pg 1902
   2. Metcalfe DD: Conclusions.J Invest Dermatol 96:64S, 1991
   3. Mican JM et al: Hepatic involvement in mastocytosis: clinicopathological correlation in 41 cases. Hepatology 22:1163, 1995
   4. Kettlehut BV et al: Hematopathology of the bone marrow in pediatric cutaneous mastocytosis: A study of 17 patients. AM J Clin Pathol 91:558, 1989
   5. Vella-Briffa D et al: Photochemotherapy(PUVA) in the treatment of urticaria pigmentosa. Br J Dermatol 109:67, 1983
   6. Kettlehut BV, Metclfe DD: Pediatric mastocytosis. J Invest Dermatol 96:15S, 1991.
   
   Legends :
   
   1. Fig 1a -Multiple hyperpigmented macules
   
   2. Fig 1b - Hyperpigmented macules(close up)
   
   3. Fig 2 - Darier's sign and Dermographism
   
   4. Fig 3 - Round to oval cells in the upper dermis and around the hair follicles (10X)
   
   5. Fig 4 - Fried egg appearance of cells (40X)
   
   6. Fig 5 - Metachromatically staining infiltrate of cells - Giemsa (40X)