II. Epidemiology

  1. Prevalence: <1% (U.S.)
  2. More common in white patients
  3. Age of onset >40 years

III. Symptoms

  1. Typically asymptomatic
  2. May rarely bleed or be pruritic

IV. Signs

  1. Red-blue, benign vascular Papules
  2. Typically 1-2 mm in size (up to 6 mm)
  3. Distribution
    1. Clustered on the glans penis, often linear along the margin
    2. May occur on Scrotum, groin, thighs, and abdominal wall
  4. Red Flag: Lesions on the penile shaft, suprapubic region or Sacrum
    1. Suggests Fabry Disease and requires referral (see below)

V. Differential Diagnosis

  1. Pearly Penile Papules
  2. Penile Cancer
  3. Fabry Disease (Lysosomal Storage Disease)
    1. May present with Angiokeratomas on the penile shaft, suprapubic region or Sacrum
    2. Fabry Disease is associated with Renal Failure, Cardiomyopathy, Hypertension, anhidrosis and neuropathic pain
    3. Requires urgent Consultation

VI. Management: Symptomatic Cases (e.g. Bleeding)

  1. Electrocautery
  2. Cryotherapy
  3. Laser ablation
  4. Surgical excision

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Ontology: Angiokeratoma (C0002985)

Definition (NCI) A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).
Definition (MSH) A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.
Concepts Neoplastic Process (T191)
MSH D000794
ICD10 M9141/0
SnomedCT 26810009
English Angiokeratoma, Angiokeratomas, Angiokeratoma [Disease/Finding], angiokeratoma, angiokeratomas, Angiokeratoma NOS, Angiokeratoma (morphologic abnormality)
Dutch angiokeratoom NAO, angiokeratoom, Angiokeratoom, Keratoom, angio-
French Angiokératome SAI, Angiokeratome, Angiokératome
German Angiokeratom NNB, Angiokeratom
Italian Angiocheratoma non specificato, Angiocheratoma
Portuguese Angioceratoma NE, Angioceratoma
Spanish Angioqueratoma NEOM, angioqueratoma (anomalía morfológica), angioqueratoma, Angioqueratoma
Japanese 被角血管腫NOS, 被角血管腫, ヒカクケッカンシュNOS, ヒカクケッカンシュ
Swedish Angiokeratom
Czech angiokeratom, Angiokeratom, Angiokeratom NOS
Finnish Angiokeratooma
Russian ANGIOKERATOMA, АНГИОКЕРАТОМА
Polish Angiokeratoma
Hungarian Angiokeratoma, Angiokeratoma k.m.n.
Norwegian Angiokeratom

Ontology: Fabry Disease (C0002986)

Definition (NCI) A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
Definition (LNC) Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Definition (CSP) x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.
Definition (MSH) An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Concepts Disease or Syndrome (T047)
MSH D000795
ICD10 E75.21
SnomedCT 236536000, 190796008, 190792005, 16652001, 124464003
LNC LP113911-4, MTHU036941, LA14036-0
English Anderson Fabry Disease, Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum, Fabry's Disease, Angiokeratoma corporis diffusm, Ceramide trihexosidase defic, CERAMIDE TRIHEXOSIDE LIPOIDOSIS <FABRYS DISEASE>, alpha Galactosidase A Deficiency Disease, alpha-Galactosidase A Deficiency Disease, FABRY DISEASE, ANDERSON-FABRY DISEASE, HEREDITARY DYSTOPIC LIPIDOSIS, ALPHA-GALACTOSIDASE A DEFICIENCY, GLA DEFICIENCY, CERAMIDE TRIHEXOSIDASE DEFICIENCY, Fabry Disease, ALPHA GALACTOSIDASE A DEFIC DIS, FABRY DIS, alpha galactosidase deficiency, ANGIOKERATOMA CORPORIS DIFFUSUM, Fabry's disease (diagnosis), Alpha-galactosidase A defic, CERAMIDE TRIHEXOSIDE LIPOIDOSIS FABRYS DISEASE, Alpha-Galactosidase A Deficiency, Fabry (-Anderson) disease, Fabry Disease [Disease/Finding], alpha-Galactosidase A Deficiency, alpha Galactosidase A Deficiency, Deficiency, alpha-Galactosidase A, fabry disease, disease fabry's, fabri disease, fabry's disease, thesaurismosis hereditaria, anderson-fabry disease, fabrys disease, disease fabry, Alpha galactosidase A deficiency, Lipidosis, Hereditary Dystopic, Ceramide Trihexosidase Deficiency, Diffuse Angiokeratoma, Deficiency, Ceramide Trihexosidase, Hereditary Dystopic Lipidosis, Angiokeratoma, Diffuse, GLA Deficiency, Deficiency, GLA, Angiokeratoma Diffuse, Alpha-galactosidase A deficiency (disorder), GLA, Angiokeratoma corporis diffusum universale, Fabry's disease, Anderson-Fabry disease, Cardiovasorenal syndrome, Ceramide lactoside lipidosis, Ceramide trihexosidase deficiency, GLA deficiency, Hereditary dystopic lipidosis, Lactosyl ceramidosis, Ruiter-Pompen syndrome, Sweeley-Klionsky disease, Thesaurismosis hereditaria, Thesaurismosis lipoidica, alpha-Galactosidase-A deficiency, Angiokeratoma corporis diffusum, Fabry disease, Alpha-galactosidase A deficiency, Deficiency of alpha-galactosidase (disorder), Deficiency of alpha-galactosidase, Deficiency of melibiase, Fabry's disease (disorder), Fabry, Anderson-Fabry, corporis diffusum; angiokeratoma, angiokeratoma; corporis diffusum, ceramide trihexosidosis, angiokeratoma corporis diffusum, ceramide trihexosidase deficiency
Dutch angiokeratoma corporis diffusum universale, alfa-galactosidase-A-deficiëntie, angiokeratoom; corporis diffusum, corporis diffusum; angiokeratoom, ziekte van Fabry, Angiokeratoma corporis diffusum, Fabry, ziekte van, Ziekte van Fabry, Ziekte van Fabry-Anderson
German Angiokeratoma corporis diffusum universale, Mangel an Alpha-Galaktosidase A, Fabry-Syndrom, Angiokeratoma corporis diffusum, Fabry-Anderson-Syndrom, Fabry-Krankheit
Italian Angiocheratoma corporis diffusum universale, Deficienza di alfa-galattosidasi A, Malattia di Fabry
Portuguese Angiokeratoma corporis diffusum universale, Deficiência de alfa-galactosidade A, Angioceratoma Corpóreo Difuso, Doença de Anderson-Fabry, Doença de Fabry
Spanish Angioqueratoma corporal difuso universal, Deficiencia de alfa-galactosidasa A, angioqueratoma corporis difuso universal, deficiencia de GLA, deficiencia de alfa - galactosidasa (trastorno), deficiencia de alfa - galactosidasa A, deficiencia de alfa - galactosidasa, deficiencia de ceramida trihexosidasa, deficiencia de melibiasa, enfermedad de Anderson - Fabry, enfermedad de Anderson Fabry, enfermedad de Fabry (trastorno), enfermedad de Fabry, enfermedad de Sweeley - Klionsky, lactosil ceramidosis, lipoidosis distópica hereditaria, síndrome cariovasorrenal, síndrome de Ruiter - Pompen, tesaurismosis hereditaria, tesaurismosis lipoidica, Enfermedad de Fabry, Angioqueratoma Corpóreo Difuso, Enfermedad de Anderson-Fabry
Swedish Fabrys sjukdom
Japanese ファブリビョウ, コウハンセイタイカンカクカケッカンシュ, αガラクトシダーゼA欠乏, アルファガラクトシダーゼAケツボウ, Anderson-Fabry病, Fabry病, α-ガラクトシダーゼ欠損症, びまん性体幹角化血管腫, びまん性体部被角血管腫, びまん性体部角化血管腫, び慢性体部被角血管腫, セラミドトリヘキソシド蓄積症, ファブリ病, 広汎性体幹角化血管腫, 瀰漫性体幹角化血管腫, 糖脂質リピドーシス, 角化血管腫-瀰漫性体幹, び漫性体幹被角血管腫, アンダーソン-ファブリー病, ファブリー病, 角化血管腫-びまん性体幹
Czech Andersonova-Fabryho nemoc, Fabryho syndrom, angiokeratoma corporis diffusum, Fabryho nemoc, Angiokeratoma corporis diffusum universalis, Deficit alfa-galaktosidázy A
Finnish Fabryn tauti
Russian ANDERSONA-FABRI BOLEZN', FABRI BOLEZN', ANGIOKERATOMA TULOVISHCHA DIFFUZNAIA, АНГИОКЕРАТОМА ТУЛОВИЩА ДИФФУЗНАЯ, АНДЕРСОНА-ФАБРИ БОЛЕЗНЬ, ФАБРИ БОЛЕЗНЬ
Polish Glikosfingolipidoza, Choroba Andersona-Fabry'ego, Choroba Fabry'ego
Hungarian Angiokeratoma corporis diffusum universale, Alfa-galaktozidáz A hiány, Fabry-betegség
Norwegian Arvelig dystopisk lipidose med alfagalaktosidase A-mangel, Fabrys sykdom
French Thésaurismose lipoïdique héréditaire, Maladie de Fabry, Angiokératome diffus de Fabry, Angiokératose diffuse de Fabry, Sphingolipidose héréditaire de Fabry, Angiokératose diffuse universelle, Déficit en alpha-galactosidase A

Ontology: Angiokeratoma of Fordyce (C0263639)

Concepts Neoplastic Process (T191)
SnomedCT 254789007, 238747004, 6331000
Italian Angiocheratoma dello scroto
Japanese 陰嚢角化血管腫, インノウカクカケッカンシュ
English Scrotal Angiokeratoma, angiokeratoma of scrotum, angiokeratoma scrotum, angiokeratoma of fordyce, fordyce angiokeratoma, angiokeratoma fordyce, angiokeratomas scrotum, angiokeratomas fordyce, Scrotal angiokeratoma, Angiokeratoma of Fordyce (diagnosis), scrotal neoplasm benign angiokeratoma of fordyce, Angiokeratoma of Fordyce, Angiokeratoma of scrotum, Fordyce angiokeratoma, Angiokeratoma of Fordyce (disorder), Fordyce Angiokeratoma, Fordyce-Type Angiokeratoma of Scrotum, Fordyce-Type Angiokeratoma of the Scrotum, Angiokeratoma of Scrotum, Angiokeratoma of the Scrotum, Scrotal Fordyce-Type Angiokeratoma
Czech Skrotální angiokeratom
Hungarian Herezacskó angiokeratomája
Spanish angioqueratoma de Fordyce (trastorno), angioqueratoma de Fordyce, angioqueratoma de escroto, Angioqueratoma escrotal
Portuguese Angioceratoma escrotal
Dutch balzak angiokeratoom
French Angiokératome scrotal
German Angiokeratoma scroti