Angiokeratoma of tongue in the pediatric age group: a rare presentation.

BACKGROUND: Angiokeratoma is a rare cutaneous presentation with unknown etiology. CASE PRESENTATION: A case of a 10-year male, who was presented to the ENT OPD with a swelling over the posterior aspect of the tongue. The chief complaints included growth on the right side of the posterior third of the tongue which was extending up to the base of the tongue on the same side. CONCLUSION: Excisional biopsy was taken and sent for histopathology which was suggestive of inflamed angiokeratoma. Post-excision there is no recurrence till date.

Angiokeratoma-like purpuric palmar nodules following chemotherapy.

We describe a patient with leukemia undergoing chemotherapy who developed painful purpuric nodules of the digits. These findings were concerning for endocarditis (clinically) and angiokeratomas on gross histology. After extensive evaluation, we report the development of painful purpuric nodules as a likely side effect of the patient's therapeutic regimen (hydroxyurea, danorubicin, cytarabine, and methotrexate).

[Solitary angiokeratoma of the tongue]. / Solitair angiokeratoom van de tong.

A 41-year-old woman, who was referred with a reddish purple like lesion on the left side of the tongue, appeared to have an angiokeratoma after histopathological examination. Because of the benign character of this lesion and the absence of any complaints, no adjuvant treatment after excisional biopsy was indicated. Angiokeratomas rarely appear as solitary oral lesions. More often they are seen as part of an underlying systemic disease, mostly Fabry disease. Due to widespread skin involvement of angiokeratomas with Fabry disease, referral to a dermatologist is indicated when oral lesions are encountered. Esthetically unpleasing or painful angiokeratomas can be locally excised or treated by laser- or cryotherapy.

Eccrine angiokeratomatous hamartoma combined with solitary angiokeratoma or verrucous venous malformation: Report of two cases and comprehensive review of the literature.

First reported in 2006, eccrine angiokeratomatous hamartoma is a very rare vascular malformation of the skin, with only few described cases. It has a peculiar histopathology with features deriving from the combination of two different vascular malformations of the skin: solitary angiokeratoma and eccrine angiomatous hamartoma. In the past, other authors described similar hamartomatous lesions with features deriving from verrucous venous malformation and eccrine angiomatous hamartoma. We believe that these lesions are clearly overlapping from clinical, histopathological, and immunohistochemical points of view and the term "eccrine angiokeratomatous hamartoma" should be used to indicate the whole spectrum of these lesions as suggested by Kanitakis et al. Herein we present two cases of this rare vascular hamartoma, with clinical, histopathological and immunohistochemical characterization. In addition, for the first time we report a complete and detailed review of the literature to clarify the clinical, epidemiological, and histopathological features of this unique entity.

Topical sirolimus for treatment of a solitary angiokeratoma.

Angiokeratomas are benign vascular neoplasms that arise as solitary or multiple lesions, most commonly treated with excision, electrodessication, cryotherapy, or laser therapies. This case presents a young female whose solitary angiokeratoma was treated with topical 1% sirolimus cream, improving the appearance, symptoms, and size of the lesion. Topical sirolimus cream may be a noninvasive treatment option for angiokeratomas with fewer risks than standard therapy that may be feasible and preferable for some patients.

Enoxaparin induced eruptive angiokeratoma, an extremely rare side effect.

Enoxaparin is one of the most commonly used anticoagulants in the management of thromboembolic events. Herein we report a unique case of enoxaparin induced eruptive angiokeratomas in a patient with a history of ischemic cardiomyopathy who presented with acute decompensated heart failure and a new-onset generalized skin rash that bleeds on trauma, suggestive of angiokeratomas. Dermoscopic examination, as well as skin biopsy, were done upon clinical suspicion of eruptive angiokeratomas, to confirm the diagnosis. Dermoscopy showed dark lacunae surrounded by erythema, while skin biopsy revealed dilated congested capillaries lined by flat endothelial cells in the papillary dermis, both confirming the diagnosis of angiokeratoma. Enoxaparin induced eruptive angiokeratomas was suspected when the skin eruption showed spontaneous dramatic resolution upon withdrawal of enoxaparin followed by its substitution with warfarin, during the course of the patient's treatment. Enoxaparin induced eruptive angiokeratoma is an extremely rare side effect. Physicians should have a high index of clinical suspicion, and promptly discontinue the drug, as this is the only proven treatment for this condition.

Use of topical rapamycin in acral pseudolymphomatous angiokeratoma of children (APACHE): A report of two cases and review of the literature.

Acral pseudolymphomatous angiokeratoma of children (APACHE) is a rare, benign disease characterized clinically by multiple, asymptomatic, erythematous papules in the acral regions. We report APACHE in a 12-year-old girl with erythematous-violaceous papules on the lateral dorsum of her foot and toes, and a 3-year-old girl with erythematous papules on the plantar aspect of her foot. Topical rapamycin ointment improved the lesions and both patients tolerated the medication well. Topical rapamycin appears to be a potentially efficacious, well-tolerated, non-invasive therapy in APACHE, although further studies are needed.

Angiokeratoma circumscriptum.

Angiokeratoma circumscriptum is the rarest variant of angiokeratoma. It usually affects females and it is characterized by dark-red to blue-black confluent papules or nodules on lower limbs in a segmental and unilateral distribution. We describe the clinical and histopathological findings in a patient with angiokeratoma circumscriptum and discuss the etiology, associations, diagnosis, differential diagnosis, and treatment.

[Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient]. / Diffuse hyperkeratotische Papeln am unteren Abdomen und im Genitalbereich bei einem 38­jährigen Patienten.

A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α­galactosidase A (α-GAL A). Treatment options include lifelong enzyme replacement therapy or chaperone therapy.

Solitary plaque on the leg of a child: A report of two cases and a brief review of acral pseudolymphomatous angiokeratoma of children and unilesional mycosis fungoides.

Acral pseudolymphomatous angiokeratoma of children (APACHE) and unilesional mycosis fungoides (MF) are two rare dermatoses in the pediatric population which may have overlapping clinical and histopathologic features, making differentiation between these two diagnoses difficult. We present two similar cases of a solitary plaque on the thigh of a child, one representing APACHE and the other representing unilesional MF with granulomatous features, and we provide a brief overview of the clinical and histopathologic features of APACHE and unilesional MF.

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.

Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.

Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms. Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands. It has been described that >50% of fucosidosis patients have angiokeratoma. At molecular level, fucosidosis is caused by lysosomal alpha-L-fucosidase (FUCA1) gene mutations. Obtaining samples for functional studies has been challenging due to the inherent difficulty in finding affected individuals. The effect of FUCA1 dysfunction on gene expression is unknown. The aim of this study was to analyse, in keratinocytes, the transcriptomic effect of FUCA1 knock-down for a better understanding of skin lesions' pathogenesis affecting fucosidosis patients. FUCA1 knock-down (siRNA) was performed in human HaCaT immortalised keratinocytes. Affymetrix arrays and qPCR were used for analysing gene expression. Bioinformatics was used for functional clustering of modified genes. In total, 387 genes showed differential expression between FUCA1 silenced and non-silenced cells (222 up-regulated and 165 down-regulated). Up-regulated genes belonged to two major groups: keratinocyte differentiation/epidermal development (n = 17) and immune response (n = 61). Several transcription factors were up-regulated in FUCA1-siRNA transfected cells. This effect might partly have been produced by abnormal transcription factor expression, that is FOXN1. We thus propose that fucosidosis-related skin lesions (eg angiokeratoma) and those of other diseases (eg psoriasis) might be caused by dysfunctions in common aetiological overlapping molecular cascades.

A case report of adult-onset multiple angiokeratomas with zosteriform distribution.

Angiokeratomas are benign vascular ectasias in the papillary dermis associated with epidermal changes in the form of hyperkeratosis and/or acanthosis. Clinically, angiokeratomas appear as solitary or multiple dark red to purple-black macules and/or papules, mostly with a verrucous surface. Five subtypes of angiokeratoma have been proposed - angiokeratoma corporis diffusum, angiokeratoma of Mibelli, angiokeratoma of Fordyce, angiokeratoma circumscriptum, and "solitary and multiple" angiokeratomas. We report an unusual case of multiple angiokeratomas in a zosteriform distribution with onset at age 74.

Acral angiokeratoma-like pseudolymphoma in a middle-aged woman.

Acral angiokeratoma-like pseudolymphoma is a rare type of pseudolymphoma presenting as dark-red papules on the hand or foot. We describe a 59-year-old woman who presented with an unusual unilateral, clustered aggregate of scaly violaceous papules on the toe with an indolent course. Skin biopsy showed a prominent vascular proliferation associated with a dermal infiltrate of monoclonally rearranged T-follicular helper phenotype T-cells, in keeping with CD4+ small/medium T-cell lymphoproliferative disorder (SMPTC-LPD). Based on the unique clinical morphology, distribution of the lesions and dermoscopic appearance, a clinicopathologic diagnosis of acral angiokeratoma-like pseudolymphoma was favored. This case demonstrates the importance of clinicopathological correlation in such diagnostically challenging patients who present with overlapping features on the spectrum of pseudolymphoma and cutaneous T-cell lymphoma.

Laser treatment of cutaneous angiokeratomas: A systematic review.

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.

Angiokeratoma of Tongue.

A 9 year old male presented with diffuse swelling on his tongue since childhood associated with intermittent bleeding. On examination there was multiple, sessile, firm, pinkish, erythematous, shiny papules on both dorsal and ventral surface of the tongue. Angiokeratomas are vascular malformations of capillaries characterized clinically by asymptomatic, solitary or multiple, keratotic papules or plaques, and histologically by benign vascular ectasia of the papillary dermis. Treatment usually consists of local excision and intralesional injection of steroids.

Genital angiokeratomas of Fordyce 595-nm variable-pulse pulsed dye laser treatment.

BACKGROUND: Angiokeratoma of Fordyce (AF) represents dark red or blue-black papules with a scaly surface located on scrotum, labia majora, and penis. Though usually asymptomatic, bleeding after mechanical trauma and sexual intercourse may occur. AF should be differentiated from malignant melanoma, angiosarcoma, and other pigmented lesions. The treatment, usually asked from patients as the result of anxiety and social embarrassment, should be performed in a non-aggressive manner. OBJECTIVES: To determine the safety and effectiveness of 595-nm variable-pulse pulsed dye laser (VPPDL) with a Dynamic Cooling Device (DCD) in the treatment of AF. METHODS: Twenty-four patients (22 men and two women) aged 40.88 ± 12.48 years with AF were included in the retrospective study. Lesions located on scrotum, labia majora, and penis were treated with 595-nm VPPDL in the intervals of one to three months. Variable spot, fluence, and pulse-width parameters were used with and/or without DCD skin cooling. RESULTS: AF were successfully removed in all patients in one to seven (mean ± SD = 3.38 ± 2.16) treatment sessions with no permanent side effects or complications such as dyspigmentations or scarring. Recidives were observed in four patients after 0.5-1 year intervals. CONCLUSIONS: 595-nm VPPDL with DCD represents an efficient and safe method for the removal of multiple lesions of AF in genital localization.

Immunohistochemical Staining of Pediatric Solitary Angiokeratomas.

The precise etiology and subtype of vessels constituting angiokeratomas is poorly understood. We sought to characterize the vessels by studying prospero-related homeobox gene-1 and D2-40 expression in 22 pediatric solitary angiokeratomas. Routine histologic examination demonstrated a mix of lymph-containing vessels and erythrocyte-filled small vessels. Our results suggest that angiokeratomas may in part be comprised of vessels with lymphatic differentiation.

Angiokeratoma of the Glans Penis.

Angiokeratomas are benign vascular lesions characterized by ectatic blood vessels in the papillary dermis with overlying acanthosis and hyperkeratosis, often occurring as idiopathic scrotal tumor and rarely as penile lesions. Twelve men, including our case of a 58-year-old white man, have been reported with angiokeratomas of the glans penis. The lesions typically present as asymptomatic dome-shaped papules ranging in size from 0.5 to 5 mm and present as red, purple, blue, or black lesions along the penile coronal rim. Histopathologic examination of the lesions reveals dilated, thin-walled vascular structures in the upper portion of the dermis with overlying acanthosis and/or hyperkeratosis. Such angiokeratomas may have a multifactorial etiology with elevations in local venous pressure, degeneration of elastic tissue, and/or capillary injury. Biopsy would exclude a melanocytic lesion, particularly melanoma. Laser surgery is an option for patients presenting with multiple lesions or lesions that coalesce to form a plaque.