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Diffuse Cutaneous Mastocytosis

DCM


Presentation

  • We present a 10-year-old boy with diffuse cutaneous mastocytosis characterized by disseminated papular, nodular, and infiltrated leathery lesions. The patient presented with chronic diarrhea and malnutrition.[ncbi.nlm.nih.gov]
  • A 10-month-old boy presented with a history of a generalized cutaneous bullous eruption since 3 months of age. Emesis, flush, pruritus, and fatigue had accompanied relapsing episodes of sometimes extensive blistering.[ncbi.nlm.nih.gov]
  • Results of laboratory testing including mast cell mediator levels, and clinical symptoms on presentation and during follow-up were analyzed.[ncbi.nlm.nih.gov]
  • The skin symptoms appeared in age-dependent manner; blistering predominated in infancy, whereas grain-leather appearance of the skin and pseudoxanthomatous presentation developed with time. SM was not recognized in any of the patients.[ncbi.nlm.nih.gov]
  • We describe a case of DCM with a very severe presentation at birth and fatal outcome.[ncbi.nlm.nih.gov]
Collapse
  • The most affected age group are [3] The prognosis is good, but there is a risk of sudden mast cell degranulation due to any trigger and subsequent collapse. [4] As the case report by da Costa et al. in 2005 where they describe a case of sudden, unexpected[ijpd.in]
  • Acute episodes of vascular collapse  Treated with self administered premeasured epinephrine preparations(EPIPEN)  Oral Prednisone(20-40mg/day for 2-4 days) can be given to prevent recurrence of episodes 51.[slideshare.net]
  • These drugs can provoke anaphylaxis, vascular collapse, or syncope.[epathologies.com]
  • Abrupt release of histamine causing circulatory collapse should be treated with epinephrine filled syringes for self-injection. Cromolyn sodium decreases bone pain, headaches, and gastrointestinal complaints.[sdominko.tripod.com]
  • Anaphylaxis due to acute mast cell mediator release can be triggered by multiple factors and should be promptly address due to the potential for massive cardiovascular collapse and death.[worldallergy.org]
Intravenous Drugs
Respiratory Distress
  • Pulmonary infiltration with mast cells in cutaneous mastocytosis can present with sudden onset respiratory distress. [Figure 1], [Figure 2], [Figure 3][e-ijd.org]
Macrocephaly
  • He was also diagnosed with macrocephaly (enlarged head), which has thankfully been ruled as benign, and he should grow into it as he grows.[globalgenes.org]
Follicular Hyperkeratosis
  • Our case presented the triad clue for the diagnosis, characterized by follicular hyperkeratosis, prematurity and perinatal complications, but the clinical diagnosis was further complicated by hypereosinophilia and a strongly positive Darier's sign suggesting[ncbi.nlm.nih.gov]
Bullous Rash
  • […] release the contents of their granules (histamine, tryptase, prostaglandins…) in response to different stimuli, triggering a systemic response: bronchoconstriction, increased permeability, intestinal hypermotility … The disease manifests with recurrent bullous[analesdepediatria.org]
Hyperkeratosis
  • Our case presented the triad clue for the diagnosis, characterized by follicular hyperkeratosis, prematurity and perinatal complications, but the clinical diagnosis was further complicated by hypereosinophilia and a strongly positive Darier's sign suggesting[ncbi.nlm.nih.gov]
Facial Redness
  • She had recurrent suspected anaphylactic reactions with facial redness and whole body multiple erythematous lesions.[synapse.koreamed.org]
Neonate-Onset
  • Herein, we describe the case and provide the first review of the literature on neonatal onset diffuse cutaneous mastocytosis to clarify the prognosis of this condition.[ncbi.nlm.nih.gov]
  • His prognosis appears good, compared with other reports of similar neonatal onset.[ncbi.nlm.nih.gov]
  • Less than 30 cases of neonatal onset DCM have been described in the literature so far. The majority of patients present with generalized erythroderma with a reddish to brown-orange discoloration and extensive bullae.[mastowyattwarrior.org]
  • onset Q82.2 of newborn onset Q82.2 Urticaria L50.9 ICD-10-CM Diagnosis Code L50.9 Urticaria, unspecified 2016 2017 2018 2019 Billable/Specific Code pigmentosa D47.01 ICD-10-CM Diagnosis Code D47.01 Cutaneous mastocytosis 2018 - New Code 2019 Billable[icd10data.com]
Radiculopathy
  • Several things such as migraines, acute appendicitis , radiculopathies of the cervical and lumbar spines, Shingles or a herpetic skin infection can cause this heightened sensation of the skin which can also be seen in a condition know as Complex Regional[healthtap.com]
Screaming
  • ‘Now, Geraint will scream for hours but I just have to sit with him and wait until he calms down - I can’t pick him up like other mothers would because it only makes him worse.’[dailymail.co.uk]
Hyperesthesia
  • Symptoms of these disorders vary by location and type, but are thought to be caused by the release of chemical mediators like histamine ...Read more 8 What causes cutaneous hyperesthesia? Allodynia newer name: Cutaneous hyperesthesia is a bit dated.[healthtap.com]

Workup

  • Infectious workup was negative and shave biopsy revealed a dense, diffuse dermal infiltrate of mast cells, consistent with diffuse cutaneous bullous mastocytosis-a rare variant of cutaneous mastocytosis.[ncbi.nlm.nih.gov]
  • Blistering ceased at 5 months of age, but atopic dermatitis appeared at 6 months and allergic workup revealed a high level of food-specific IgE.[ncbi.nlm.nih.gov]
  • Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. J Hematol Oncol, 4(10), 10.1186/1756-8722-4-10 [ii] Hartmann K, et al. (2016).[mastattack.org]
  • A bone scan, GI workup, and identification of the D816V c-kit mutation can also be helpful in cases where the diagnosis requires confirmation.[merckmanuals.com]
  • The pattern of aeroallergen and food sensitization and asthma in atopic patients with mastocytosis did not differ from that found in patients without mastocytosis but a comprehensive allergic workup (including skin prick testing, total and specific IgE[worldallergy.org]
Bilateral Pulmonary Infiltrate
  • Figure 1: (a) Multiple tense bullae and erosions developed with peau dæorange-like skin on the face, scalp, and trunk, (b) Bilateral pulmonary infiltration in chest X-ray Click here to view Figure 2: (a) Sub-epidermal bullae with a dense cellular infiltration[e-ijd.org]

Treatment

  • Treatment was started with oral dimethindine maleate. At the age of 18 months, oral sodium cromoglicate (SCG) was introduced. At the age of 23 months, additional treatment was started with a cutaneous emulsion containing 4% SCG.[ncbi.nlm.nih.gov]
  • Treatment with imatinib, a KIT inhibitor, resulted in resolution of the lesions and were well tolerated by the patients.[ncbi.nlm.nih.gov]
  • Treatment of the four infants with photochemotherapy dramatically reduced or eliminated symptoms. One course of therapy resulted in improvement, and retreatment has not been required two to six years later.[ncbi.nlm.nih.gov]
  • Treatment included a prolonged course of corticosteroids and antihistamines.[ncbi.nlm.nih.gov]
  • Treatment of the bullous manifestations is symptomatic, with zinc oxide paste and oral antihistamines, which may provide some relief. In addition, cimetidine and sodium cromoglycate may be beneficial.[ncbi.nlm.nih.gov]

Prognosis

  • Although our results suggest generally favourable prognosis, the review of the literature indicate that SM may occur. Therefore, more guarded prognosis should be given in DCM patients.[ncbi.nlm.nih.gov]
  • Herein, we describe the case and provide the first review of the literature on neonatal onset diffuse cutaneous mastocytosis to clarify the prognosis of this condition.[ncbi.nlm.nih.gov]
  • His prognosis appears good, compared with other reports of similar neonatal onset.[ncbi.nlm.nih.gov]
  • Articles in this issue include Human Mast Cell Signal Transduction; Mast cell tryptase role in homeostasis and coagulation; Mastocytosis: Current Classification and Diagnostic criteria; Epidemiology, risk factors and prognosis of mastocytosis; Mast cell[books.google.com]
  • Although childhood mastocytosis has a good prognosis but sometimes it may be progressive and can be fatal.[ijpd.in]

Etiology

  • Etiology in many patients involves an activating mutation (D816V) in the gene coding for the stem cell factor receptor c-kit, which is present on mast cells.[merckmanuals.com]
  • Etiology The etiology of mastocytosis remains unknown. Children who develop this disease usually have a self-limited disorder, whih often resolves before adulthood.[sdominko.tripod.com]

Epidemiology

  • Articles in this issue include Human Mast Cell Signal Transduction; Mast cell tryptase role in homeostasis and coagulation; Mastocytosis: Current Classification and Diagnostic criteria; Epidemiology, risk factors and prognosis of mastocytosis; Mast cell[books.google.com]
  • Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations. UpToDate . December 5, 2016; . Habashy J and Robles DT. Mastocytosis. Medscape Reference . May 15, 2017; . Fett NM, Teng J, and Longley BJ.[rarediseases.info.nih.gov]
  • A mutation of the oncogene C-KIT D816V is found in many (but not all) cases. [ 9 ] Epidemiology [ 10 ] This is a rare and heterogeneous group of disorders, of which urticaria pigmentosa is the most common manifestation.[patient.info]
  • Epidemiology cutaneous mastocytosis (CM): accounts for 80% of cases of mastocytosis. It most commonly seen in children, 80% of whom are less than 6 months old.[e-immunohistochemistry.info]
  • Epidemiology: Mastocytosis is seen in all ethnic backgrounds. Estimated incidence is approximately 1:20,000 (4). It occurs in males and females in approximately equal ratios.[worldallergy.org]
Sex distribution
Age distribution

Pathophysiology

  • In addition to the age of onset, adult and pediatric forms of mastocytosis differ in their clinical course and pathophysiology.[sdominko.tripod.com]

Prevention

  • A comprehensive diagnostic approach, advanced therapeutic strategies, regular follow-ups, and instruction of patients and relatives on prevention and prophylaxis are highly indicated.[ncbi.nlm.nih.gov]
  • Typical treatments include taking antihistamines to prevent the effect of mast cell histamine.[dailymail.co.uk]
  • Mast cell stabilizers help prevent mast cells from releasing their chemical contents. Cromoglicic acid is the only medicine specifically approved by the FDA for the treatment of mastocytosis.[en.wikipedia.org]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]
  • […] comprising lymphocytes and plenty of mast cells Click here to view The child was treated with an oral anti-histaminics (both H1 and H2 blocker) and a short-course (6 weeks) of an oral steroid (prednisolone) along with topical antibiotics (mupirocin) to prevent[ijpd.in]

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