Rare Diseases Symptoms Automatic Extraction

Neonatal onset diffuse cutaneous mastocytosis: a case report and review of the literature.

[cutaneous mastocytosis]

Diffuse cutaneous mastocytosis is a rare variant of mast cell disease with widespread erythroderma, which is normally clinically apparent in early infancy. We report the case of a neonate who presented with diffuse erythrodermic rash and bullous lesions. Biopsy specimens showed a dense dermal infiltrate of mast cells. Serum histamine and tryptase levels were elevated. No somatic mutation of the c-kit gene was found. 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. 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.

Diseases presenting "high level" symptom

  • 22q11.2 deletion syndrome
  • aniridia
  • cadasil
  • carcinoma of the gallbladder
  • cohen syndrome
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • omenn syndrome
  • oral submucous fibrosis
  • pyomyositis
  • scrub typhus
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy

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