Abnormalities of dermal fibrous and elastic tissue

group of genetic connective tissue disorders

osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue

form of scarring on the skin

Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.

Human disease

skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs

Human disease

Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. It typically affects only the upper eyelids, and may be unilateral as well as bilateral.

acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis

syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta

medical condition

protein-coding gene in the species Homo sapiens

Anetoderma is a benign but uncommon disorder that causes localized areas of flaccid or herniated sac-like skin due to a focal reduction of dermal elastic tissue. Anetoderma is subclassified as primary anetoderma, secondary anetoderma, iatrogenic anetoderma of prematurity, congenital anetoderma, familial anetoderma, and drug-induced anetoderma.

Acrodermatitis /ac·ro·der·ma·ti·tis/ is a childhood form of dermatitis selectively affecting the hands and feet and may be accompanied by mild symptoms of fever and malaise. It may also be associated with hepatitis B and other viral infections. The lesions appear as small coppery-red, flat-topped firm papules that appear in crops and sometimes in long linear strings, often symmetric. It is a diffuse chronic skin disease usually confined to the limbs, seen mainly in women in Northern, Central, and Eastern Europe, and characterized initially by an erythematous, oedematous, pruritic phase followe

human disease