Rare Diseases Symptoms Automatic Extraction

[Kindler syndrome: three cases reports in three siblings].

[kindler syndrome]

Kindler syndrome is a rare type of genetic skin condition belonging to the class of bullous poikilodermia. We report three new cases of this rare syndrome.This condition was seen in two brothers aged 4 and 14 years and in their sister aged 6 years, born of a first-degree consanguineous marriage in a family with Kindler syndrome of varying degrees of severity. The three patients presented spontaneously regressive bullous eruptions, poikilodermia of gradual onset, major cutaneous atrophy on the back of the hands and the feet, pseudo-syndactyly and photosensitivity. The older brother presented a severe form complicated by chronic terminal renal failure with hydronephrosis secondary to urethral stenosis and hypertension as well as oesophageal stenosis requiring dilatation sessions. Electron microscopy examination of poikilodermic skin showed normal anchoring filaments and proliferation of the basal layer. Electron microscopy examination of rubbed poikilodermic skin from the other two siblings showed cleavage at both the superficial and deep intra-epidermal levels.Diagnosis of Kindler syndrome is based upon clinical evidence. Electron microscopic examination is used in particular to rule out congenital bullous epidermolysis. Detachment of layers at two or three different levels in relation to the dermal-epidermal junction described in the literature forms a specific but inconsistent feature of Kindler syndrome.

Diseases presenting "basal layer" symptom

  • aniridia
  • epidermolysis bullosa simplex
  • esophageal adenocarcinoma
  • harlequin ichthyosis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • oral submucous fibrosis

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