Glossary for Ichthyosis
Medical terms related to Ichthyosis or mentioned in this section include:
- Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
- Atopic dermatitis: Skin rash usually from allergic causes.
- Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
- Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
- Congenital disorder of glycosylation type 1M: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
- Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
- Conradi-Hünermann Syndrome: A condition which affects the development of bone and cartilage
- Del (2) (q37.1-qter) and dup (14) (q31.2-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
- Eczema: Skin rash usually from allergic causes.
- Epidermolytic Hyperkeratosis: A rare inherited skin disorder characterized by blistering, redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable.
- Gaucher disease -- perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
- Hodgkin's Disease: A form of cancer that affects the lymphatic system.
- Ichthyosiform Erythroderma, Corneal Involvement and Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
- Ichthyosiform erythroderma, corneal involvement, deafness: A very rare recessively inherited disorder characterized by deafness, eye problems and red scaly skin.
- Ichthyosis Vulgaris: A skin disorder characterized by dry scaly skin which often forms in areas such as the abdomen, chest, elbows and knees. Cold weather can exacerbate the condition. The condition is usually inherited in a dominant manner but in rare cases it may be acquired.
- Ichthyosis congenital -- biliary atresia: A very rare syndrome characterized mainly by dry, rough, scaly skin from birth and an abnormal biliary tract.
- Ichthyosis hystrix gravior: A rare disorder characterized by thickening of the out layer of skin as well as quill-like projections.
- Ichthyosis mental retardation asymptomatic spasticity: A rare syndrome characterized mainly by mental retardation, spasticity and dry scaly skin.
- Ichthyosis mental retardation dwarfism renal impairment: A rare genetic condition characterized by dwarfism, mental retardation, kidney dysfunction and ichthyosis (skin disorder characterized by fish-like scales).
- Keratitis: Cornea inflammation.
- Keratitis Ichthyosis Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
- Koone-Rizzo-Elias syndrome: A rare congenital disorder characterized by mental retardation, spasticity and dry, scaly skin.
- Lamellar ichthyosis: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
- Meleda Disease: A very rare inherited skin disorder primarily involving dry thick skin patches that develop on the palms of hands and soles of feet. The type and severity of symptoms is variable.
- Multiple Sulfatase Deficiency: A condition characterized by multiple sulfatase deficiencies
- Netherton syndrome ichthyosis: A rare inherited skin disorder characterized by scaly skin which forms in a circular pattern.
- Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
- Non-Hodgkin's Lymphoma: A condition which is any neoplastic disorder of the lymphoid tissue
- Non-Hodgkin's lymphoma: A condition which is any neoplastic disorder of the lymphoid tissue
- Paraneoplastic syndromes:
- Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
- Rayner-Lampert-Rennert syndrome: A rare syndrome characterized mainly by ichthyosis (dry, scaly skin), mental retardation, dwarfism and kidney disease.
- Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
- Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
- Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.
- SIBIDS syndrome: A rare disorder characterized mainly by sulfur-deficient brittle hair as well as osteosclerosis.
- Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
- Shwachman-Diamond Syndrome:
- Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
- Sjogren-Larsson-like syndrome: A very rare syndrome characterized by a thickened scaly skin similar to that observed in sufferers of Sjogren-Larsson syndrome.
- Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
- Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
- X-linked ichthyosis: A rare genetic skin disorder occurring in males only and resulting from an inborn error of metabolism (deficiency of the enzyme steroid sulfatase).
- Zellweger-like syndrome, without peroxisomal anomalies: A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects.
- Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.
Conditions listing medical symptoms: Ichthyosis:
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Conditions listing medical complications: Ichthyosis:
The following list of medical conditions have 'Ichthyosis'
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