Angiokeratoma corporis diffusum, idiopathicE75.2
Synonym(s)
Diffuse idiopathic angiokeratoma corporis; Idiopathic diffuse angiokeratoma corporis
DefinitionThis section has been translated automatically.
In contrast to angiokeratoma corporis diffusum without metabolic disorder, this rare disease is accompanied by angiokeratomas of the skin and associated malformations. A reduction in intelligence does not usually occur.
Clinical featuresThis section has been translated automatically.
Herd-shaped, blue-blackish vascular lesions occurring in childhood, signs of dysmorphia and in individual cases mental retardation (possibly asphyxia at birth).
Capillaroscopy: Torqued and tufted capillaries of normal size, partly with halos. Small bleedings on individual fingers on both sides, partly avascular fields, capillary density reduced by 6/mm2. Plexus Visibility Score 0, no evidence of vascular changes in internal organs.
LaboratoryThis section has been translated automatically.
No detection of pathological metabolic products (lipids, water-soluble oligosaccharides) or enzymes.
HistologyThis section has been translated automatically.
Pronounced ectasia of the vessels in the upper corium, reaching right under the epidermis.
No abnormal lysosomes in lesional endothelial cells and fibroblasts in 5 patients examined by electron microscopy.
LiteratureThis section has been translated automatically.
- Gerbig AW et al (1995) Angiokeratoma corporis diffusum without associated metabolic disorder. dermatologist 46: 785-788
- Laxmisha C et al (2003) Cutaneous variant of angiokeratoma corporis diffusum. Dermatol Online J 9: 13