Rare Diseases Symptoms Automatic Extraction

Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye.

[lamellar ichthyosis]

We report spontaneous corneal perforation in a patient with lamellar ichthyosis. The patient presented with complaints of pain, redness, diminished vision, and discharge in her right eye for 15 days. Visual acuities were light perception in the right and 20/400 in the left eye. Cicatricial ectropion in both lower eyelids and 2 mm perforation site in the center of the right cornea were observed. Lamellar ichthyosis was suspected because of scaling and excessive dryness of entire body skin and was confirmed by skin biopsy. Amniotic membrane transplantation and transient tarsorraphy was performed and systemic anti-ichthyosis therapy was started. The follow-up visits were not possible because of patient inconsistency. In patients with cicatricial ectropion secondary to ichthyosis, corneal health should be closely monitored because of the perforation risk.

Diseases presenting "pain" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • coats disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • neuralgic amyotrophy
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • trochlear dysplasia
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

This symptom has already been validated