A familial periodic fever syndromes were described and identified in the latter half of the twentieth century, there have been descriptions of periodic fever since antiquity. In this short historical study, these milestones are briefly described starting with Galen and ending with the characterisation of the Mediterranean FeVer (MEFV) gene towards the end of the twentieth century, and the eluci...

BACKGROUND Case-control studies of familial cancer risk traditionally rely on self-reported family history of cancer, which may bias results due to differential recall between case patients and control subjects. To evaluate the reliability of self-reported data, we analyzed questionnaire and registry-based data on familial cancer from a population-based case-control study of malignant lymphoma....

AIMS Ostium secundum atrial septal defect (osASD) is one of the most common cardiac malformations. Few data are available on the familial recurrence of congenital heart disease (CHD), in particular, in a large group of patients with isolated osASD. The aim is to investigate the familial recurrence of CHD in up to third-degree relatives from a large sample of consecutively enrolled patients with...

white sponge nevus (wsn) is a rare hereditary dyskeratotic hyperplasia of mucous membranes. it is an autosomal dominant disorder with variable penetrance. we report a case of wsn in a healthy 21-year-old male with no history of familial involvement. a white smooth plaque with no erythema or other structural abnormalities was observed, which confirmed the diagnosis of wsn histopathologically.

The aims of this study were to estimate the prevalence of familial cases in patients with Meniere's disease (MD) and to identify clinical differences between sporadic and familial MD. We recruited 1375 patients with definite MD according to the American Academy of Otolaryngology-Head and Neck Surgery criteria, obtaining the familial history of hearing loss or episodic vertigo by direct intervie...

Congenitally missing of maxillary lateral incisors is one of the most common patterns of hypodontia. This paper presents a nine year old boy with congenital missing of lateral incisors. Familial history showed that, his mother, aunts, uncle and grandmother have also congenital absence of lateral incisors.

BACKGROUND Having a relative with inflammatory bowel disease increases the risk for Crohn's disease but may also increase its severity in affected patients. AIMS To evaluate the influence of a family history on Crohn's disease course and severity. METHODS 1316 patients followed in the same unit were studied retrospectively. Age at onset, duration of illness, site, and extent of disease were...

We present a rare case of multisite xanthomatosis occurring in a 38-year-old normocholesterolemic man without a familial history. More commonly, these conditions are associated with familial hypercholesterolemia and cerebrotendinous xanthomatosis. Tendon xanthomas should prompt clinicians to perform a thorough investigation of the patient's metabolic panel and family history. Rarely, these cond...

Clustered occurrences of ankylosing spondylitis (AS) in family have been noticed. We evaluated patients with AS confirmed by the modified New York criteria for familial history of AS (one or more first to third degree relatives). The clinical characteristics and the recurrence risks (number of AS patients/number of familial members) of the familial AS compared to sporadic AS were investigated. ...