Rare Diseases Symptoms Automatic Extraction

Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.

[harlequin ichthyosis]

Ichthyosis fetalis or Harlequin ichthyosis is an extremely severe and fatal hereditary skin disorder with an autosomal recessive inheritance. It is distinctive because of its remarkable clinical appearance which includes epidermal keratinization, hypoplasia of fingers or nails, malformation of ear and nose and incompatibility with life. This report describes a case of Harlequin ichthyosis along with detailed autopsy findings, which manifested the suspended animation in the early hours after delivery and showing a peculiar malformation of the cerebral hemispheres. To the best of the knowledge, this may be the first report of Harlequin ichthyosis in the forensic literature describing mal development of cerebral hemispheres and suspended animation in a case of Harlequin Ichthyosis.

Diseases presenting "first report" symptom

  • achondroplasia
  • alexander disease
  • aniridia
  • cadasil
  • canavan disease
  • child syndrome
  • cohen syndrome
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • harlequin ichthyosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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