ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. hypodontia of the primary and permanent dentition is the most common oral finding. therefore, affected patients need dental prosthetic treatments during their developmental years. this report presents two cases of children aff...

cronkhite- canada syndrome (ccs) considered as a rare and non-hereditary disorder. gastrointestinal polyposis and diarrhea along with some extra signs and symptoms such as hypoproteinemia, and epidermal manifestations are recognized in this syndrome. the pathophysiology of this syndrome is not completely understood and it seems that inflammatory processes may be involved. we present a 50 year-o...

Edema is tissue swelling and is a common symptom in a variety of diseases. Edema form due to accumulation of fluids, either through reduced drainage or increased vascular permeability. There are multiple vascular signalling pathways that regulate vessel permeability. An important mediator that increases vascular leak is the peptide hormone bradykinin, which is the principal agent in the swellin...

Introduction PFAPA syndrome (periodic fever, aphtous stomatitis, pharyngitis, adenitis) is an autoinflammatory disease, for which no genetic marker has been identified yet, and its etiology remains unknown. However, the clinical and biochemical similarities to other autoinflammatory conditions, including Familial Mediterranean Fever (FMF), suggest that a genetic impairment might constitute the ...

Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.

Face recognition is considered as an important phenomenon in our everyday life. In 19th century cognitive science got introduced with a new term ‘prosopagnosia’ (face disorder) for the first time by Joachim Bodmer. The derived from Greek word prosopon (face) and gnosis (knowledge), refers to condition which was observed consequence of brain lesions (acquired prosopagnosia). Initially it believe...

www.aafp.org/afp AMERICAN FAMILY PHYSICIAN 853 Most physicians diagnose only a few cases of hereditary hemochromatosis in their practice because they do not routinely test for iron overload and because many patients with the disorder have no manifestations. It is estimated that the typical primary care physician encounters one patient with hereditary hemochromatosis every two weeks. Iron overlo...

The hereditary dysplastic nevus syndrome (DNS) is a well-characterized disorder in which affected individuals have increased numbers of premalignant (dysplastic) nevi and a markedly increased risk of developing cutaneous melanoma. Seeking evidence of a systemic disorder in DNS, we examined the effect of ultraviolet radiation on cultured lymphoid cells. Epstein-Barr virus-transformed lymphoblast...

Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1 inhibitor. It is characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swelling involving different organs. Hereditary angioedema may present with diverse clinical pictures, even within families with the same mutation. We present a fir...

Background: Segmental pigmentation disorder (SegPD) is a rare type of cutaneous dyspigmentation. This hereditary disorder, first described some 20 years ago, is characterized by hypo and hyperpigmented patches on the trunk, extremities and less likely on the face and neck. These lesions are considered as a type of checkerboard pattern. Case Presentation: Herein, we present a 26-year-old male...