Rare Diseases Symptoms Automatic Extraction

Bilateral Coats' response in a female patient leads to diagnosis of facioscapulohumeral muscular dystrophy.

[coats disease]

Facioscapulohumeral dystrophy (FSHD) is a rare autosomal dominant muscle disease that affects about 5 in 100,000 individuals. Retinal vascular changes that mimic Coats' disease have been described in previously diagnosed FSHD. We report a diagnosis of FSHD only after the detection of a rare bilateral Coats' response in a female patient.A 39-year-old asymptomatic black woman presented for a second opinion of a lesion previously diagnosed as an isolated hemangioma in the left temporal retina. She had no relevant family or personal health history. She was not born prematurely, did not show evidence of autoimmune disease, and had a normal hemoglobin electrophoresis. Examination found an exudative mass in the left temporal retina and subtle telangiectatic vessels in the right temporal retina. Optomap® (Optos®, Dunfermline, Scotland) fluorescein angiography found multiple areas of capillary drop-out, arborization, and telangiectatic microaneurysms in both eyes (left eye greater than right eye). Genetic testing results were positive for a deletion of tandemly repeated DNA (D4Z4 repeats) in chromosome 4q35 consistent with a diagnosis of FSHD.A prior diagnosis of FSHD alerts the clinician to look for a Coats' response in the retina. However, bilateral Coats' disease in a female should alert the clinician to test for FSHD.

Diseases presenting "female patient" symptom

  • achondroplasia
  • adrenal incidentaloma
  • alexander disease
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • esophageal squamous cell carcinoma
  • fabry disease
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

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