Papillon–Lefèvre syndrome: a series of five cases among siblings

Papillon–Lefèvre syndrome: a series of five cases among siblings

BACKGROUND Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. CASE PRESENTATION A series o...

Papillion Lefevre Syndrome-A Case Series of Siblings

Papillon Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one third of cases. The palmar plantar keratoderma typically has its onset between the ages...

Five cases of cyclical Cushing's syndrome.

Reported cases of cyclical Cushing's syndrome are rare. Of 14 successive patients with Cushing's syndrome nine collected sequential urine samples for the estimation of cortisol:creatinine ratio. Five had cyclical Cushing's syndrome while two had considerable variation in urinary cortisol excretion without a cyclical pattern being established. Two of the five patients with a cyclical syndrome ha...

JOUBERT SYNDROME : an observation of five cases

Lowe syndrome: report of five cases.

INTRODUCTION Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL), has a recessive inheritance linked to X chromosome. It presents cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal Fanconi syndrome. OBJECTIVE Describe five patients with OCRL, attended at Tubulopathy outpatient clinic. METHOD We performed a retrospective assessment of 5 male patient...