Rare Diseases Symptoms Automatic Extraction

Neonatal cutaneous mastocytosis.

[cutaneous mastocytosis]

Neonatal cutaneous mastocytosis is rare infiltrative disorder of the skin. Though often asymptomatic, systemic features may be associated with any clinical pattern of the disorder at any age group. We present our experience with a 3 1/2 months old female child. She presented with recurrent eruption of tense bullae preceded by flushing, irritability since day 3 of life. Darier sign and dermatographism were present. Skin biopsy confirmed the case as urticaria pigmentosa which is the most common form of cutaneous mastocytosis. Investigation revealed deranged liver function. Child was given H1 antihistaminics and topical glucocorticoid. Family counselled about chance of anaphylaxis to various toxins and drugs and risk of development of systemic mastocytosis.

Diseases presenting "skin biopsy" symptom

  • adrenomyeloneuropathy
  • cadasil
  • cutaneous mastocytosis
  • dentinogenesis imperfecta
  • dracunculiasis
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • harlequin ichthyosis
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis
  • malignant atrophic papulosis
  • monosomy 21
  • oligodontia
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

You can validate or delete this automatically detected symptom