Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form...

Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation...

The aim of this article is to review possible cranio-maxillofacial deformative consequences associated with hypohidrotic ectodermal dysplasia and embryonic malformations, which include dental ageneses, and describe the oral habilitation. Hypohidrotic ectodermal dysplasia patients had a clinical examination and underwent radiographic and Steiner's analyses and a respiratory capability test befor...

nated glove (4H) appears relatively impermeable toMMA,but widespreaduse is limitedby cost anddiminisheddexterity.2,3 Allergic contact dermatitis inducedbyMMAmay result in significant discomfort and is seen frequently after occupational exposure amongdentists, dental technicians, orthopedic surgeons, andotherhealthcareworkers. Second-andthirddigit fingertips are commonly involved.3 Nail dystroph...

Dyskeratosis congenita, a rare inherited condition, is estimated to occur in 1 in 1 million people. The disease is characterised by a classic triad: nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. These patients may also exhibit variable extend of pulmonary, gastrointestinal, genitourinary, cerebral, and dental involvement. Early mortality is often associated with bone marro...

We present a 35-year-old male patient with Bureau-Barrière syndrome. Bureau-Barrière syndrome is an ulcero-mutilating acropathy almost invariably associated with excessive alcohol intake. It presents with a triad of trophic skin changes with recurrent ulcerations, bone lesions and nerve damage. The clinical presentation includes chronic painless plantar ulcerations with periulcerous hyperkerato...

Dyskeratosis Congenita (DC) is a rare inherited fatal disorder characterized by classic triad of oral leukoplakia, nail dystrophy and abnormal skin pigmentation. Variable somatic abnormalities may be present like pulmonary, neural, immune, oral complications. Bone marrow failure, pulmonary disease and malignancy are the main mortality causes of disorder. Oral and dental manifestations could be ...

Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow failure develops and this is the main cause of early mortality. The DC1 gene responsible for the X linked form (MIM 305000) of dyskeratosis congenita has been mapped to Xq28. In order to narrow the ca...

muscular dystrophies are inherited disorders that cause progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. some of the genes responsible for these conditions have been identified .there are a number of different types of muscular dystrophy. the primary symptom for most types is muscle weakness, althou...

Cronkhite-Canada syndrome (CCS) is a rare, non-inherited polyposis syndrome, characterized by diffuse gastrointestinal (GI) hamartomatous polyposis with unique dermatologic changes including alopecia, skin hyperpigmentation, and nail dystrophy. Patients can typically present with diarrhea, weight loss, protein-losing enteropathy, and nutritional deficiency. However, it can demonstrate diverse o...