Ramadan S. Hussein
Full Text Available Angiokeratoma is a rare, usually acquired muco-cutaneous wart-like vascular lesion that is frequently reported in the scrotum. Bleeding may occur if angiokeratoma is excoriated or traumatized. We report an exceedingly rare solitary eyelid angiokeratoma in an otherwise normal middle aged male. Our case represents the second case in the English peer reviewed literature since 1966, when the first case of eyelid angiokeratoma was reported.
Gupta Sunil k
Full Text Available A case of Angiokeratoma circumscriptum in a 13 year old female child is reported with swelling over right knee and presence of verrucous plaques on the same studded with papulonodular lesions since birth.
Dhawan, Amit Kumar; Pandhi, Deepika; Goyal, Surbhi; Bisherwal, Kavita
Angiokeratoma of vulva is a relatively rare lesion which is occasionally misdiagnosed as melanoma, pyogenic granuloma, seborrheic keratosis, or genital warts. We report a case of vulvar angiokeratomas which were diagnosed and managed as genital warts. All asymptomatic dull red-colored papules over vulva should be subjected to astute clinical and histological examination to diagnose angiokeratoma and differentiate it from other lesions.
Full Text Available Angiokeratomas are benign tumors characterized by epidermal hyperkeratosis, acanthosis and multiple dilated blood vessels in the papillary dermis. Angiokeratoma of Fordyce is one of five types in the group of the angiokeratomas, which occurs on the scrotum, penis or vulva. It is usually observed in young adults or elderly men. A 6-year-old boy presented to the dermatology department because of papular and erythematous lesions on his scrotum and penis. These lesions were found at birth and were asymptomatic. There was a history of occasional bleeding on trauma from the lesions. Histological evaluation of a skin biopsy specimen showed hyperkeratosis and acanthosis of the epidermis and multiple dilated thin-walled vessels in the papillary dermis. Based on the clinical, histopathological and dermoscopic findings, the patient was diagnosed with Fordyce angiokeratoma. Herein, we report a case of angiokeratomas of Fordyce, which is very rare in childhood and the dermoscopic findings
Full Text Available A 34 year old female had vascular, keratotic papules on her external genitalia for 4 years. The histopathology was diagnostic of angiokeratoma. The case is being reported because of its uncommon occurrence.
McCallum, D. I.; Macadam, R. F.; Johnston, A.W.
Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.
Kudur, Mohan H; Manjunath Hulmani
Angiokeratoma of Fordyce occurring over vulva is rare. Angiokeratoma of Fordyce commonly occurs in males over scrotum or penile shaft and presents as multiple verrucous reddish papules. They are usually asymptomatic and noticed accidentally. In the present article, we present and review the literature of giant angiokeratoma of Fordyce in middle-aged women due to its rarity.
Fonia, A; Bhatt, N; Robson, A; Kennedy, C T C
Acral pseudolymphomatous angiokeratoma of children (APACHE) is a condition that was first described in 1990 in a group of children, but has since been described in adults. We present the cases of identical twin patients aged 40 years. The first brother presented with an 8-year history of itchy lesions over the left ankle and the insteps of both feet. After a diagnostic biopsy, he was treated with potent steroids under occlusion for 8 weeks, which resulted in flattening of the lesions and resolution of the pruritus. The second twin had a 20-year history of a very similar presentation but the lesions were less pronounced; he chose not to have treatment. No other family members were affected. Skin biopsies from both patients showed similar changes. Within an overall hyperkeratotic and acanthotic epidermis, there were focal areas of lichenoid change and epidermal thinning. Beneath these areas, there was oedema and nodular aggregates of dense inflammatory cell infiltrate, predominantly lymphocytic infiltrate. APACHE has not been previously described in twins. PMID:27663149
Baumgartner, Ján; Šimaljaková, Mária; Babál, Pavel
Angiokeratomas are rare vascular mucocutaneous lesions characterized by small-vessel ectasias in the upper dermis with reactive epidermal changes. Angiokeratoma circumscriptum (AC) is the rarest among the five types in the current classification of angiokeratoma. We present a case of an extensive AC in 19-year-old women with Fitzpatrick skin type I of the left lower extremity, characterized by a significant morphological heterogeneity of the lesions, intermittent bleeding, and negative psychological impact. Histopathological examination after deep biopsy was consistent with that of angiokeratoma. The association with metabolic diseases (Fabry disease) was excluded by ophthalmological, biochemical, and genetic examinations. Nuclear magnetic resonance imaging has not detected deep vascular hyperplasia pathognomic for verrucous hemangioma. The combined treatment with 595-nm variable-pulse pulsed dye laser (VPPDL) and 755-nm long-pulse pulsed alexandrite laser (LPPAL) with dynamic cooling device led to significant removal of the pathological vascular tissue of AC. Only a slight degree of secondary reactions (dyspigmentations and texture changes) occurred. No recurrence was observed after postoperative interval of 9 months. We recommend VPPDL and LPPAL for the treatment of extensive AC. PMID:26736060
... N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci. 2002 May;29(1):42-8. Citation ... in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15-20. Epub ...
Full Text Available age disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural prob...lems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorp
Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.
Gürol Açıkgöz; Çağlayan Çağdaş Demirci; Ercan Arca
Pigmented lesions on the vulva are rare and their non specific features cause difficulties in their diagnosis and differential diagnosis. Because of their localization, it is difficult to follow up vulvar lesions, which are generally noticed coincidentally by patients. Vulvar pigmented lesions are classified clinically as macules/papules and patches/plaques to provide ease of the diagnosis. Nevi, angiokeratomas, seborrheic keratosis, melanoma, basal cell carcinoma and squamous cell carcinoma ...
Undas, Anetta; Ryś, Donata; Wegrzyn, Wojciech; Musiał, Jacek
A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.
Neslihan Onenli Mungan
Full Text Available Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications, renal insuffiency or stroke. Currently there is no cure for Fabry disease, enzyme replacement therapy is the only choice in this progressive disease. A 9-year-old boy admitted to the Dermatology Clinic with reddish papular skin lesions, joint pain and anhydrosis. Hystological examination of the skin biopsy revealed angiokeratoma. There was no renal dysfunction or proteinuria. Biochemical confirmation of Fabry disease was made by determining the deficient leukocyte and #945;-galactosidase activity. Subsequently, the patient's molecular analysis was identified a novel nonsense mutation c. 785G>T in the GLA gene. Enzyme replacement therapy with agalsidase beta was started. He is on enzyme replacement therapy for 8 years, significant improvement was obtained in severity and frequency of pain crisis and fatigue. We report this case to emphasize the importance of early diagnosis of Fabry disease restricted to dermatological findings, especially before renal and cardiac involvement occurs, while enzyme replacement therapy is now available. Also this patient is one of the first Fabry patients under enzyme replacement therapy in Turkey. [Cukurova Med J 2015; 40(Suppl 1: 156-160
Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia
Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.
Grazzini, Marta; Stanganelli, Ignazio; Rossari, Susanna; Gori, Alessia; Oranges, Teresa; Longo, Anna Sara; Lotti, Torello; Bencini, Pier Luca; De Giorgi, Vincenzo
Vascular skin lesions comprise a wide and heterogeneous group of malformations and tumors that can be correctly diagnosed based on natural history and physical examination. However, considering the high incidence of such lesions, a great number of them can be misdiagnosed. In addition, it is not so rare that an aggressive amelanotic melanoma can be misdiagnosed as a vascular lesion. In this regard, dermoscopy and confocal laser microscopy examination can play a central role in increasing the specificity of the diagnosis of such lesions. In fact, the superiority of these tools over clinical examination has encouraged dermatologists to adopt these devices for routine clinical practice, with a progressive spread of their use. In this review, we will go through the dermoscopic and the confocal laser microscopy of diagnosis of most frequent vascular lesions (i.e., hemangiomas angiokeratoma, pyogenic granuloma, angiosarcoma) taking into particular consideration the differential diagnosis with amelanotic melanoma. PMID:22950556
Nisticò, Steven; Campolmi, Piero; Moretti, Silvia; Del Duca, Ester; Bruscino, Nicola; Conti, Rossana; Bassi, Andrea; Cannarozzo, Giovanni
Flash-lamp pulsed-dye laser (FPDL) is a nonablative technology, typically used in vascular malformation therapy due to its specificity for hemoglobin. FPDL treatments were performed in a large group of patients with persistent and/or recalcitrant different dermatological lesions with cutaneous microvessel involvement. In particular, 149 patients (73 males and 76 females) were treated. They were affected by the following dermatological disorders: angiokeratoma circumscriptum, genital and extragenital viral warts, striae rubrae, basal cell carcinoma, Kaposi's sarcoma, angiolymphoid hyperplasia, and Jessner-Kanof disease. They all underwent various laser sessions. 89 patients (59.7%) achieved excellent clearance, 32 patients (21.4%) achieved good-moderate clearance, 19 patients (12.7%) obtained slight clearance, and 9 subjects (6.1%) had low or no removal of their lesion. In all cases, FPDL was found to be a safe and effective treatment for the abovementioned dermatological lesions in which skin microvessels play a role in pathogenesis or development. Further and single-indication studies, however, are required to assess a standardized and reproducible method for applying this technology to "off-label" indications. PMID:27631010
Full Text Available Lewandowsky and Lutz dysplasia, also known as epidermodysplasia verruciformis (EV, is an inherited disorder in which there is widespread and persistent infection with human papilloma virus, defect in cell-mediated immunity and propensity for malignant transformation. Differential clinical and histopathologic evolutions of lesions in two cases of familial EV are compared and discussed in detail. Cases were followed up for 7 years. Detailed history, clinical features and investigations, including skin biopsy from different sites at different times, were examined. Generalized pityriasis versicolor like hypopigmented lesions in both the cases, together with variable pigmented nodular actinic keratosis like lesions on sun-exposed areas, were present. Multiple skin biopsies done from various sites on different occasions revealed features typical of EV along with lesions, i.e., actinic keratosis, Bowen′s disease, basal and squamous cell carcinoma, in the elder sibling. However, skin biopsy of the other sibling showed features of EV and seborrheic keratosis only till date. This study reveals that the disease progression is variable among two individuals of the same family. Malignant lesions were seen only on sun-exposed areas and may be associated with other skin lesions or infections such as angiokeratoma of Fordyce and tinea cruris, as seen in this report.
Full Text Available A series of 100 male patients with non-venereal dermatoses of external genitalia were screened amongst patients visiting Dermatology OPD of JIPMER, Pondicherry from Aug â€97 to March â€99. The overall prevalence was found to be 14.1 per 10,000. Non-venereal dermatoses were common in the 21-40 years age group. Most of the patients (74% belonged to labourer class. A total of 25 different non-venereal dermatoses were studied. Genital vitiligo was the most common disorder accounting for 16 cases. Sebaceous cyst of the scrotum was present 13 patients. Among infections and infestations, scabies was observed in 9 patients. Ariboflavinosis was seen in 9 cases. Other disorders encountered were calcinosis scrotum. Iymphangiectasia of the scrotum. Lichen simplex chronicus. Fixed drug eruption, angiokeratoma of Fordyce, lichen sclerosus et atrophicus etc. The study has been quite useful in understanding the clinical and aetiological characteristics of various types of non-veneral dermatoses in males in this subcontinen of Asia.
Full Text Available Pigmented lesions on the vulva are rare and their non specific features cause difficulties in their diagnosis and differential diagnosis. Because of their localization, it is difficult to follow up vulvar lesions, which are generally noticed coincidentally by patients. Vulvar pigmented lesions are classified clinically as macules/papules and patches/plaques to provide ease of the diagnosis. Nevi, angiokeratomas, seborrheic keratosis, melanoma, basal cell carcinoma and squamous cell carcinoma are classified under the macules/papules, and post-inflammatory hyperpigmentation, physiological hyperpigmentation, melanosis and acanthosis nigricans are classified under the patch/plaque. Dermatoscopic examination, which is increasing recently, is very valuable for avoiding possible cosmetic and functional complications of surgical procedures. However, epidermal pigmentations such as vulvar melanosis and vulvar intraepitelyal neoplazi are dermatoscopically indistinguishable. It may also be difficult to diagnose vulvar melanoma clinically and dermatoscopically. Histological examination is the gold standard for the diagnosis of pigmented vulvar lesions, which are clinically and dermatoscopically indistinguishable. (Turk J Dermatol 2012; 6: 39-44
Full Text Available Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of Endocrinology, Department of Medicine, Vancouver Hospital and Health Sciences Centre, University of British Columbia, Vancouver, BC, CanadaAbstract: Fabry disease (FD is a multisystem, X-linked disorder of glycosphingolipid metabolism caused by enzyme deficiency of α-galactosidase A. Affected patients have symptoms including acroparesthesias, angiokeratomas, and hypohidrosis. More serious manifestations include debilitating pain and gastrointestinal symptoms, proteinuria and gradual deterioration of renal function leading to end-stage renal disease, hypertrophic cardiomyopathy, and stroke. Heterozygous females may have symptoms as severe as males with the classic phenotype. Before 2001, treatment of patients with FD was supportive. The successful development of enzyme replacement therapy (ERT has been a great advancement in the treatment of patients with FD and can stabilize renal function and cardiac size, as well as improve pain and quality of life of patients with FD. In this review, we have provided a critical appraisal of the literature on the effects of ERT for FD. This analysis shows that data available on the treatment of FD are often derived from studies which are not controlled, rely on surrogate markers, and are of insufficient power to detect differences on hard clinical endpoints. Further studies of higher quality are needed to answer the questions that remain concerning the efficacy of ERT for FD.Keywords: Fabry disease, agalsidase α, agalsidase β, Replagal, Fabrazyme, critical appraisal, evidence-based medicine
Germain Dominique P
Full Text Available Abstract Fabry disease (FD is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain, cutaneous (angiokeratoma, renal (proteinuria, kidney failure, cardiovascular (cardiomyopathy, arrhythmia, cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with