Angiokeratoma of fordyce in a children

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Ömer Çalka

2014-12-01

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

Laser treatment of cutaneous angiokeratomas: A systematic review.

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Nguyen, Jannett; Chapman, Lance W; Korta, Dorota Z; Zachary, Christopher B

2017-11-01

Angiokeratomas can present therapeutic challenges, especially in cases of extensive lesions, where traditional surgical methods carry high risks of scarring and hemorrhage. Argon, pulsed dye (PDL), neodymium-doped yttrium aluminum garnet (Nd:YAG), copper vapor, potassium titanyl phosphate, carbon dioxide, and erbium-doped yttrium aluminum garnet (Er:YAG) lasers have emerged as alternative options. To review the use and efficacy of lasers in treating angiokeratomas. A PubMed search identified randomized clinical trials, cohort studies, case series, and case reports involving laser treatment of cutaneous angiokeratomas. Twenty-five studies were included. Quality ratings were assigned using the Oxford Centre for Evidence-Based Medicine scheme. Several laser modalities are effective in treating multiple variants of angiokeratomas. Vascular lasers like PDL, Nd:YAG, and argon are the most studied and of these, PDL offers the safest side effect profile. Nd:YAG may be more effective for hyperkeratotic angiokeratomas. Combination treatment with multiple laser modalities has also demonstrated some success. Lasers are a promising treatment option for angiokeratomas, but current use is limited by the lack of treatment guidelines. There are limited high quality studies comparing laser treatments to each other and to non-laser options. Additional studies are needed to establish guidelines and to optimize laser parameters. © 2017 Wiley Periodicals, Inc.

Papillary endothelial hyperplasia in angiokeratoma.

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Mehta, Anurag; Sayal, Satish Kumar; Raman, Deep Kumar; Sood, Aradhana

2003-01-01

Papillary endothelial hyperplasia (Masson's tumour) is a reactive proliferation of endothelium producing papillary structures with fibrovascular cores. Dilatation, stasis and accompanying inflammation have been incriminated as the inciting events, evident by the presence of this lesion in haemorrhoids, urethral caruncles and laryngeal polyps. We present here a case of papillary endothelial hyperplasia in angiokeratoma hitherto undescribed despite sharing common etiopathogenetic features of dilatation and stasis with other aforementioned lesions.

Angiokeratoma Of the Vulva In A Young Woman

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Joshi Arun

1999-01-01

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.

Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?

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Wankhade, Vaishali; Singh, Rajesh; Sadhwani, Venus; Kodate, Purnima; Disawal, Amit

2014-01-01

Klippel-Trenaunay syndrome (KTS) is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity. The capillary malformation associated with KTS is port wine stain. Angiokeratoma circumscriptum naeviforme (ACN) is a congenital variant of angiokeratoma commonly present on the lower limb as a hyperkeratotic plaque. ACN is rarely associated with KTS. We report a case of ACN with soft tissue hypertrophy and deep ven...

Conjunctival Angiokeratoma in a Dog of Neapolitan Mastiff Breed

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Dunia Yisela Trujillo Piso

2015-09-01

Full Text Available Ocular tumors are frequent in the eye clinic of small animals. They can be primary or secondary, and its location within the eyeball or its attachments may trigger consequences ranging from the loss of aesthetics to affecting the eye’s functionality. This article presents a case of conjunctival angiokeratoma in a five-year-old female dog of Neapolitan Mastiff breed, in the Small Animal Clinic of Universidad Cooperativa de Colombia in Ibagué. The patient was treated for presenting ocular alteration in her left eye characterized by an increase of volume and hyperemia of the third eyelid conjunctiva, with a two-year evolution. During the ophthalmic examination, ocular mucosanguineous discharge, conjunctival hyperemia and follicular conjunctivitis were found. After general and ophthalmic clinical examination was performed, a biopsy of the lesion was performed for a histopathologic evaluation, which determined angiokeratoma in the third eyelid conjunctiva, a rare neoplasia in this type of tissue and in this breed. The treatment used in this case was surgical removal, with favorable results, which led to a complete removal of the tumor without sequelae in the patient.

Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?

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Vaishali Wankhade

2014-01-01

Full Text Available Klippel-Trenaunay syndrome (KTS is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity. The capillary malformation associated with KTS is port wine stain. Angiokeratoma circumscriptum naeviforme (ACN is a congenital variant of angiokeratoma commonly present on the lower limb as a hyperkeratotic plaque. ACN is rarely associated with KTS. We report a case of ACN with soft tissue hypertrophy and deep venous malformation (possibly a variant of Klippel-Trenaunay in a 4-year-old male child.

Lymphangioma circumscriptum, angiokeratoma, or superficial vascular ectasia with epithelial hyperplasia?

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Katsoulas, Nikolaos; Tosios, Konstantinos I; Argyris, Prokopios; Koutlas, Ioannis G; Sklavounou, Alexandra

2014-08-01

We report a case of lymphangioma circumscriptum (cavernous lymphangioma with epithelial hyperplasia) in a 12-year-old girl, presenting as a papillary tumor on the right dorsal side of her tongue. Microscopic examination found cavernous vascular channels lined by a single layer of CD31(+), podoplanin-positive, CD34(-) endothelial cells that occupied the papillary lamina propria and were accompanied by epithelial hyperplasia. A review of the literature on oral vascular tumors with epithelial hyperplasia, namely, lymphangioma circumscriptum and angiokeratoma, provided information that draws into question the use of these terms. Copyright © 2014 Elsevier Inc. All rights reserved.

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

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van der Tol, L.; Cassiman, David; Houge, Gunnar; Janssen, Mirian C.; Lachmann, Robin H.; Linthorst, Gabor E.; Ramaswami, Uma; Sommer, Claudia; Tøndel, Camilla; West, Michael L.; Weidemann, Frank; Wijburg, Frits A.; Svarstad, Einar; Hollak, Carla E. M.; Biegstraaten, Marieke

2014-01-01

Introduction: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

NARCIS (Netherlands)

Tol, L. van der; Cassiman, D.; Houge, G.; Janssen, M.C.; Lachmann, R.H.; Linthorst, G.E.; Ramaswami, U.; Sommer, C.; Tondel, C.; West, M.L.; Weidemann, F.; Wijburg, F.A.; Svarstad, E.; Hollak, C.E.M.; Biegstraaten, M.

2014-01-01

INTRODUCTION: Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the

A case report and brief literature review of Klippel-Trénaunay syndrome

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Choudhary MG

2012-05-01

Full Text Available Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs.Keywords: Klippel-Trénaunay syndrome, sporadic, venous varicosities, port-wine stain, angiokeratoma

[Treatable diseases of the nervous system with cataract formation].

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Baumgartner, R W; Waespe, W

1993-02-01

The detection of a cataract in combination with a neurological deficit may provide the physician with important diagnostic help. But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, galactosemia, hypocalcemia, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally. Therefore they are summed up and discussed in this paper.

A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge.

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Turkmen, Mehmet; Kavukçu, Salih; Çakmakci, Handan; Soylu, Alper; Aktan, Sebnem; Çağan, Yeliz

2010-09-01

Klippel-Trenaunay Weber syndrome (KTWS) is the coexistence of capillary vascular malformations, varicose veins, dilated arteries and arteriovenous fistulas, soft tissue and/or bone hypertrophy. We present a girl of KTWS associated with hypertrophied left kidney, enlargement in venous structures of the left kidney, recurrent bloody vaginal discharge and angiokeratomas. A 6-year-old girl was admitted to our department with complaints of recurrent bloody vaginal discharge and swelling in the left inguinal region. Physical examination revealed hypertrophy of the left lower extremity. Vaginoscopy and cystoscopy revealed normal findings. Abdominal ultrasound revealed an enlarged left kidney. Enlargement in the venous structures of the hypertrophied left kidney was detected by abdominal magnetic resonance imaging, and arteriovenous fistulas were revealed by conventional angiography. The patient was diagnosed KTWS. Ophthalmic examination was normal. Galactosidase A (GLA) level was found to be at the lower limit of the normal range, and mutation was not detected in the GLA gene. In conclusion, we have emphasized that the girls with recurrent vaginal discharge might be KTWS. Angiokeratoma may be considered as a dermatological finding of KTWS. KTWS may also have enlarged kidney and enlargement in venous structures of the kidney in hypertrophied side.

The central nervous system manifestation and CT findings of Fabry's disease

International Nuclear Information System (INIS)

Toyonaga, Kazutaka; Nishihira, Takeo

1983-01-01

A case of Fabry's disease with central nervous system dysfunction is reported. This 27-year-old man had recurrent episodes of pains in the extremities when he was a child. Spontaneous clinical remission occured around puberty. He had been well until age 22 when he experienced transient weakness of the left arm. The following year he developed transient blindness of the right eye. Then, he developed weakness in the extremities, dysphagia, dysarthria, and was brought to the hospital in unconscious state. Several members of his family are affected with the same disease presenting leg pains, kidney disease and angiokeratoma. Physical examination disclosed an optic atrophy, pseudobulbar palsy with spastic weakness in the all extremities and multiple angiokeratoma in the flank, buttocks and thighs. Abnormal laboratory findings included leukocytosis, increased ESR and strongly positive CRP. Biopsy of the skin disclosed dilated capilaries with numerous vacuoles in the cytoplasm of the epithelial cells. Thin-layer chromatography of the urine sediment showed a marked increase in ceramide trihexoside. Leukocyte alphagalactosidase level was abnormally low. CT scan showed diffuse cerebral atrophy and multiple low density areas in the thalamus, ventral pons and centrum semiovale. The CT findings and possible mechanism of the response to predonisolone were also discussed. (author)

Scrotal Rejuvenation

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2018-01-01

Genital rejuvenation is applicable not only to women (vaginal rejuvenation) but also to men (scrotal rejuvenation). There is an increased awareness, reflected by the number of published medical papers, of vaginal rejuvenation; however, rejuvenation of the scrotum has not received similar attention in the medical literature. Scrotal rejuvenation includes treatment of hair-associated scrotal changes (alopecia and hypertrichosis), morphology-associated scrotal changes (wrinkling and laxity), and vascular-associated scrotal changes (angiokeratomas). Rejuvenation of the scrotum potentially may utilize medical therapy, such as topical minoxidil and oral finasteride, for scrotal alopecia and conservative modalities, such as depilatories and electrolysis, for scrotal hypertrichosis. Lasers and energy-based devices may be efficacious for scrotal hypertrichosis and scrotal angiokeratomas. Surgical intervention is the mainstay of therapy for scrotal laxity; however, absorbable suspension sutures are postulated as a potential intervention to provide an adequate scrotal lift. Hair transplantation for scrotal alopecia and injection of botulinum toxin into the dartos muscle for scrotal wrinkling are hypothesized as possible treatments for these conditions. The interest in scrotal rejuvenation is likely to increase as men and their physicians become aware of both the conditions of the scrotum that may warrant rejuvenation and the potential treatments of the scrotum for these individuals. PMID:29755912

The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study

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Kultigin Turkmen

2016-12-01

Full Text Available Background/Aims: Fabry disease is a treatable cause of chronic kidney disease (CKD characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fabry disease in CKD patients not receiving renal replacement therapy. Methods: This prospective study assessed α-galactosidase activity in dried blood spots in 313 stage 1-5 CKD patients, 167 males, between ages of 18-70 years whose etiology of CKD was unknown and were not receiving renal replacement therapy. The diagnosis was confirmed by GLA gene mutation analysis. Results: Three (all males of 313 CKD patients (0.95% were diagnosed of Fabry disease, for a prevalence in males of 1.80%. Family screening identified 8 aditional Fabry patients with CKD. Of a total of 11 Fabry patients, 7 were male and started enzyme replacement therapy and 4 were female. The most frequent manifestations in male patients were fatigue (100%, tinnitus, vertigo, acroparesthesia, hypohidrosis, cornea verticillata and angiokeratoma (all 85%, heat intolerance (71%, and abdominal pain (57%. The most frequent manifestations in female patients were fatigue and cornea verticillata (50%, and tinnitus, vertigo and angiokeratoma (25%. Three patients had severe episodic abdominal pain attacks and proteinuria, and were misdiagnosed as familial Mediterranean fever. Conclusions: The prevalence of Fabry disease in selected CKD patients is in the range found among renal replacement therapy patients, but the disease is diagnosed at an earlier, treatable stage. These data support the ERBP recommendation to screen for Fabry disease in patients with CKD of unknown origin.

Skin Examination: An Important Diagnostic Tool in Renal Failure Patients.

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Van de Velde-Kossmann, Karen M

2018-01-01

Renal failure is common in the United States with an estimated prevalence of 660,000 treated end-stage renal disease patients in 2015 [1]. Causes of renal failure are many, and complications from renal failure, underlying disease, and treatment are not infrequent. Examples of common skin manifestations include xerosis, pigmentary change, and nail dystrophies. Frequent disease-specific skin changes may be helpful in the diagnosis of primary disorders leading to renal disease or severity of disease including bullosis diabeticorum, sclerodactyly, or leukoctoclastic vasculitis. Some cutaneous changes, such as the multiple angiokeratomas of Fabry disease or the plexiform neurofibromas of neurofibromatosis, are pathognomonic of genetic disorders, which often lead to renal failure. Careful examination of the skin can provide crucial clues to diagnosis of renal failure causation and aid in monitoring complications. © 2018 S. Karger AG, Basel.

Teenager male with burning pain in extremities--suspect Fabry disease, 2 case reports.

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Patil, Rajesh B; Joglekar, V K

2014-01-01

We present 2 cases of teenager males presented with burning pain in extremities and turned out to be cases of Fabry disease.The purpose of presenting this case is to highlight the fact that suspicion of Fabry disease in patients presenting with these symptoms will lead to early diagnosis and treatment of this condition before occurrences of complications. A 14-year-old male presented with severe burning pain in both hands and feet since last 4 yrs which persisted despite consumption of painkillers and becoming more disabling and without having any family history for such condition. On general examination patient had small reddish coloured lesions around the umbilicus, appearing like angiokeratomas. Skin biopsy confirmed the lesion. On enzyme assay his alpha galactosidase activity found to be '0' nmol/hr/mg of protein, confirming his diagnosis. Patient's creatinine and 2 D ECHO were normal and urine had 1+ proteinuria. Patient started on carbamazepine tablets for pain and referred to higher centre for genetic diagnosis and enzyme replacement therapy. CASE REPORT 2: An 18-year-old male referred to our hospital by general practitioner for fatigue and pedal oedema with deranged renal function tests. On history taking patient gave history of severe burning pain in both hands and feet since age of 9 yrs. Patient's general examination revealed hypertension with pallor, pedal oedema along with angiokeratomas in bathing suit distribution. Patient's ultrasonography of kidney revealed bilaterally normal sized kidneys with altered echotexture and urine examination showed fine granular foamy cells with sub nephrotic range proteinuria. 2 D ECHO revealed concentric left ventricular hypertrophy. Skin biopsy report supported the diagnosis of Fabry disease. Patient advised to undergo renal biopsy to confirm Fabry nephropathy but patient denied any further diagnostic workup for nephropathy or Fabry disease. Patient started on conservative treatment and carbamazepine in renal dose

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease.

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Kim, Ji-Hoon; Kim, Gee-Hee; Park, Hoon-Suk; Choi, Jin-A; Bae, Jung-Min; Cho, Uiju

2017-03-01

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

Early Renal Involvement in a Girl with Classic Fabry Disease.

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Perretta, Fernando; Antongiovanni, Norberto; Jaurretche, Sebastián

2017-01-01

Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.