Genital Angiokeratomas in Adult Men and Women: Prevalence and Predisposing Factors.

INTRODUCTION: There is a paucity of prevalence data for genital angiokeratomas in adults. The objective of this article is to determine prevalence of genital angiokeratomas in adults as a function of sex, age, and race/ethnicity. METHODS: A cross-sectional study was conducted over 11 months during 2013 and 2014 using a convenience sample of adult men and women consenting to genital examination during melanoma screening and surveillance by a senior dermatologist in an outpatient clinic. The analysis was conducted from April through December 2016. RESULTS: Of 213 white/European American adults examined (127 men and 86 women), genital angiokeratomas were detected in 30.0% (64/213). Presence of at least one genital angiokeratoma was significantly associated with male sex (odds ratio [OR], 2.4; 95% confidence interval [CI], 1.3-4.5; P < .001) and age older than 50 years (OR, 3.4; 95% CI, 1.7-6.7; P = .008). CONCLUSIONS: Genital angiokeratomas are relatively common in adults of white/European American origin and important to recognize because of their benign nature and occasional confusion with other tumors.

Phenotypic spectrum of fucosidosis in Tunisia.

Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. This study contained the largest ever Tunisian survey of fucosidosis patients, diagnosed during the period 1987-2007. The clinical pictures and outcomes of these patients are compared with literature data. Ten patients (8 boys and 2 girls) from six unrelated families were diagnosed at a mean age of 29 ± 10.3 months. Six of the patients were diagnosed as having the more severe phenotype. The other four cases presented the low progressive phenotype. This distinction was determined by the presence or absence of angiokeratoma and age of death. For all of the patients in our survey, early motor development was more severely delayed than described in the literature. Six patients presented psychomotor decline during the second year of life. Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases). Portal cavernoma, never described in the literature, was observed in one patient. The outcomes were severe in this survey, probably owing to restricted health care; death occurred in 6 of the 10 patients before age 10 years, following recurrent pulmonary infections and neurological deterioration. No intrafamilial variability was noted in the multiplex families. The clinical presentation and outcomes of some of these patients were consistent with the continuous clinical spectrum of severity in fucosidosis attested by most clinical studies.

Fabry disease: recognition and management of cutaneous manifestations.

Fabry disease (angiokeratoma corporis diffusum universale) is a rare, X chromosome-linked lysosomal storage disease. The deficient enzyme, alpha-galactosidase A (alpha-gal A), is responsible for the accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain. The disease manifests primarily in affected hemizygous men and to some extent in heterozygous women ('carriers'). The diagnosis of Fabry disease is made in hemizygous males after the detection of the presence of angiokeratomas, irregularities in sweating, edema, scant body hair, painful sensations, and of cardiovascular, gastrointestinal, renal, ophthalmologic, phlebologic, and respiratory involvement. A deficiency of alpha-gal A in serum, leukocytes, tears, tissue specimens, or cultured skin fibroblasts further supports the diagnosis in male patients. Since heterozygous women show angiokeratomas in only about 30% of cases and may have alpha-gal A levels within normal range, genetic analysis is recommended. Current treatment of angiokeratomas of Fabry disease is based mainly on the use of laser systems, including variable pulse width 532nm Neodymium:Yttrium-Aluminum-Garnet (Nd:YAG) laser, 578nm copper vapor laser, and flashlamp-pumped dye laser. When cutaneous and mucous glands are affected, restrictions may be required with regard to the time spent in a warm climate and the amount time spent working or on sporting activities, and may necessitate the use of topical and systemic antiperspirant agents, and topical application of artificial lacrimal fluid and saliva, respectively. For the future, new treatment modalities, including enzyme replacement therapy, substrate deprivation strategies, and gene therapy offer extraordinary options for the cutaneous and visceral lesions in patients with Fabry disease.

Angiokeratoma presenting as plantar verruca: a case study.

One of the more frequent pathologic conditions that podiatric physicians are confronted with is plantar verrucae. Plantar verrucae have been studied extensively in terms of morphological features and incidence in the population at large and in patients with human immunodeficiency virus infection. Solitary angiokeratomas can be morphologically similar to plantar verrucae, presenting as hyperkeratotic pedunculated lesions. We present a unique case study of a 40-year-old man with human immunodeficiency virus with a painful solitary angiokeratoma masquerading as plantar verrucae. The lesion demonstrated clinical signs consistent with those highlighted in the literature for verrucae, namely, showing as red and black lacunae, punctuated hyperkeratotic epidermis. We propose that solitary angiokeratomas should be an important part of a podiatric physician's differential diagnosis in the lower extremity owing to the similarity of morphological features with plantar verrucae.

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

BACKGROUND: Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body. OBJECTIVES: To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease. METHODS: We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database. RESULTS: We confirm that the commonest disease manifestation is angiokeratoma. Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females). We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system. Although the condition is X linked, there is a surprisingly high prevalence of abnormalities in females. CONCLUSIONS: The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.

Angiokeratomas: an update.

Angiokeratomas are vascular lesions which are defined histologically as one or more dilated blood vessel(s) lying directly subepidermal and showing an epidermal proliferative reaction. At the center of pathogenesis there is a capillary ectasia in the papillary dermis. The epidermal changes in all forms of angiokeratoma are secondary. The different entities causing vessel ectasia lead to the many clinical variants of angiokeratoma. Current classification distinguishes between widespread forms (angiokeratoma corporis diffusum), which is usually associated with an inborn error of metabolism, and localized forms, which include solitary angiokeratoma, Fordyce's angiokeratoma, angiokeratoma circumscriptum naeviforme and angiokeratoma of Mibelli.