13yrs old boy with h/o recurrent nasal bleeding. h/o heat intolerance, since birth. spot diagnosis and kindly give opinion about management



HED........ Synonyms of Hypohidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome CST Syndrome EDA HED Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, sweat glands, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine glands), causing lack of or diminished sweating (anhidrosis or hypohidrosis), heat intolerance, and fever; abnormally sparse hair (hypotrichosis), and absence (hypodontia) and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge (so-called "saddle nose"), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation (hypopigmentation). However, the skin around the eyes (periorbital) may be darkly pigmented (hyperpigmentation) and finely wrinkled, appearing prematurely aged. In many cases, affected infants and children may also exhibit underdevelopment (hypoplasia) or absence (aplasia) of mucous glands within the respiratory and gastrointestinal (GI) tracts and, in some cases, decreased function of certain components of the immune system (e.g., depressed lymphocyte function, and rarely cellular immune hypofunction), potentially causing an increased susceptibility to certain infections and/or allergic conditions. Many affected infants and children experience recurrent attacks of wheezing and breathlessness (asthma), respiratory infections; chronic inflammation of the nasal passages (atrophic rhinitis), scaling, itchy (pruritic) skin rashes (eczema), and/or other findings.

Thank you very much sir

View 1 other reply

Ectodermal dysplasia

Hypohydrotic ectodermal dysplasia. Decreased sweating causes hyperthermia. All ectodermal structures are affected. Better take an opg for complete teeth profile.

Ectodermal dysplasia

Ectodermal Dysplasia (Peg shaped teeth)

ECTODERMAL DYSPLASIA Ectodermal dysplasias is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. People with ectodermal dysplasia may not sweat or may have decreased sweating because of a lack of sweat glands. In children with the disease, their bodies may have a problem controlling fevers. Even a mild illness can produce an extremely high fever, because the skin cannot sweat and control temperature properly. Abnormal nails. Abnormal or missing teeth, or fewer than normal number of teeth. Cleft lip Decreased skin color (pigment). Large forehead. Low nasal bridge. Thin, sparse hairLearning disabilities. Poor hearing. Poor vision with decreased tear production. Weakened immune system

Ectodermal dysplasia

Angyofibroma chronic atrophic sinusitis

Ectoderma dysplasia/vampire tooth porphyria

Ectodermal dysplasia

Load more answers

Cases that would interest you