Skin conditions resulting from errors in metabolism

CADASIL ("Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy") is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19.

Lesch–Nyhan syndrome (LNS), also known as Nyhan's syndrome and juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome.

Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes.

Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner.

Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited.

Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal storage disease.

Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with approximately 400 reported cases since its discovery.

Gout is usually characterized by recurrent attacks of inflammatory arthritis—a red, tender, hot, and swollen joint.

Niemann–Pick disease (/niːmənˈpɪk/ nee-mən-PIK) is a group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells.

Myxedema or myxoedema is a term used synonymously with severe hypothyroidism.

Xanthelasma (or xanthelasma palpebrarum; pronunciation: /ˌzænθᵻˈlæzmə/) is a sharply demarcated yellowish deposit of fat underneath the skin, usually on or around the eyelids.

Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine, which occur in protein.

Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase deficiency and UROS deficiency, is a congenital form of erythropoietic porphyria.

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine.

Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis.

Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme.

Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.

Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system.

Mucolipidosis type I (ML I) or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S).

Sitosterolemia (also known as "Phytosterolemia") is a rare autosomal recessively inherited lipid metabolic disorder.

Familial amyloid polyneuropathy (FAP), also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR ( hereditary form), or Corino de Andrade's disease, is an autosomal dominant neurodegenerative disease.

Necrobiosis lipoidica is a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis.

Hyaluronidase deficiency (also known as "Mucopolysaccharidosis type IX") is a condition caused by mutations in HYAL1, and characterized by multiple soft-tissue masses.

Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria.

Variegate porphyria, also known by , is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin.

Pseudoporphyria (also known as "Pseudoporphyria cutanea tarda") is a bullous photosensitivity that clinically and histologically mimics porphyria cutanea tarda.

Prolidase deficiency (PD) is an autosomal recessive disease that is extremely uncommon and is associated with collagen metabolism and affects the connective tissues.

Familial hypertriglyceridemia is an autosomal dominant condition occurring in approximately 1% of the population.

Dystrophic calcinosis cutis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus, and occurs in a preexisting skin lesion of inflammatory process.

Diabetic dermadromes constitute a group of cutaneous conditions commonly seen in people with diabetes with longstanding disease.

Iatrogenic calcinosis cutis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus introduced by a medical procedure, either inadvertently or as a specific therapy.

Idiopathic scrotal calcinosis (also known as idiopathic calcified nodules of the scrotum) is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus occurring on the scrotum.

Metastatic calcinosis cutis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus, and associated with an internal malignancy.

Medication-induced hyperlipoproteinemia is a condition that results from the decreasing of lipoprotein lipase activity resulting in eruptive xanthomas.

Normolipoproteinemic xanthomatosis is a cutaneous condition characterized by a xanthoma in the presence of normal cholesterol and lipoprotein levels.

Secondary systemic amyloidosis is a condition that involves the adrenal gland, liver, spleen, and kidney as a result of amyloid deposition due to a chronic disease such as Behçet's disease, ulcerative colitis, etc.

Secondary cutaneous amyloidosis is a skin condition that occurs following PUVA therapy and in benign and malignant cutaneous neoplasms in which deopsits of amyloid may be found.

Subepidermal calcified nodule (also known as a "Solitary congenital nodular calcification," and "Winer's nodular calcinosis") is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus, occurring most frequently as one or a few skin lesions on the scalp or face of children.

Transient erythroporphyria of infancy (also known as "Purpuric phototherapy-induced eruption") is a cutaneous condition reported in infants exposed to blue lights for the treatment of indirect hyperbilirubinemia characterized by marked purpura in skin exposed to the UV light.

Traumatic calcinosis cutis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus often resulting from occupational exposure, as in cases reported in oil-field workers and coal miners.

Waxy skin is a cutaneous condition observed in roughly 50% of diabetic patients with longstanding disease.

Xanthoma diabeticorum is a cutaneous condition that may result in young persons who are unresponsive to insulin.

Xanthomatous biliary cirrhosis, also known as obstructive liver disease, is a condition in which there is hyperlipoproteinemia due to liver disease resulting in plane xanthomas.

A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, ξανθος, "yellow", is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states.

Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very painful.

Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as "remnant hyperlipidemia", "remnant hyperlipoproteinaemia", "broad beta disease" and "remnant removal disease") is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels.

Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.

Adrenoleukodystrophy (/-ˌlu-koʊ-ˈdis-trə-fiː/; also known as X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disease that is linked on the X chromosome.

Heredofamilial amyloidosis is an inherited condition that may be characterized by systemic or localized deposition of amyloid in body tissues.

Diabetic dermopathy (also known as "shin spots") is a type of skin lesion usually seen in people with diabetes mellitus.

Xanthoma striatum palmare is a cutaneous condition characterized by xanthomas of the palmar creases which are almost diagnostic for dysbetalipoproteinemia.

Porphyria cutanea tarda (PCT) is the most common subtype of porphyria.

Apolipoprotein B deficiency (also known as "Familial defective apolipoprotein B-100") is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor) (see native LDL-ApoB structure at 37°C on YouTube) .

Haemodialysis-associated amyloidosis is a form of amyloidosis associated with chronic kidney failure.

Amyloid purpura is a condition marked by bleeding under the skin (purpura) in some individuals with amyloidosis.

Primary systemic amyloidosis (AL amyloidosis or just primary amyloidosis) is a disease that involves the mesenchymal tissue, the tongue, heart, gastrointestinal tract, and skin.

Harrison Syndrome is a type of chronic gout associated with presence of tophi.

Maroteaux–Lamy syndrome (also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic dwarfism) is a form of mucopolysaccharidosis caused by a deficiency in arylsulfatase B (ARSB).

Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol," in the bloodstream.

Calcinosis cutis (or cutaneous calcification) is a type of calcinosis wherein calcium deposits form in the skin.

Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells.

Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).

Diabetic cheiroarthropathy is a cutaneous condition characterized by thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures, a condition associated with diabetes mellitus.

Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor.

Lafora disease, also called Lafora progressive myoclonic epilepsy or MELF, is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells of the heart, liver, muscle, and skin.

Ochronosis is the syndrome caused by the accumulation of homogentisic acid in connective tissues.

Lipoprotein lipase deficiency (also known as "familial chylomicronemia syndrome", "chylomicronemia", "chylomicronemia syndrome" and "hyperlipoproteinemia type Ia") is a rare autosomal recessive lipid disorder caused by a mutation in the gene which codes lipoprotein lipase.

A diabetic bulla (also known as "Bullosis diabeticorum" and "Bullous eruption of diabetes mellitus") is a cutaneous condition characterized by a noninflammatory, spontaneous, painless blister, often in acral locations (peripheral body parts, such as feet, toes, hands, fingers, ears or nose), seen in diabetic patients.

Osteoma cutis is a cutaneous condition characterized by the presence of bone within the skin in the absence of a preexisting or associated lesion.

Combined hyperlipidemia (or -aemia) (also known as multiple-type hyperlipoproteinemia) is a commonly occurring form of hypercholesterolemia (elevated cholesterol levels) characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL.

Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).