Angiokeratoma Research Articles

Angiokeratoma of fordyce in a children

Angiokeratoma of fordyce in a children

Expression of lymphatic markers in angiokeratomas

The term angiokeratoma refers to a group of unrelated diseases with similar histopathologic features. Four clinical variants of angiokeratoma have been described. However, it is not known whether some variants of angiokeratoma are of lymphatic origin, and an immunohistochemical study of lymphatic markers has not been previously performed. We performed an immunohistochemical study of angiokeratomas using lymphatic markers. Fifteen cases of angiokeratoma corporis diffusum, 10 cases of Fordyce angiokeratoma, 10 cases of Mibelli angiokeratoma and 10 cases of solitary angiokeratoma were examined by immunohistochemical analysis using CD31, D2-40, Prox1 and Wilms' tumor 1 (WT-1). The vessels of angiokeratoma corporis diffusum, Fordyce angiokeratoma and solitary angiokeratoma were usually focally positive for D2-40 and positive for Prox1, whereas the vessels of Mibelli angiokeratoma were negative for D2-40 and positive for Prox1. The results suggest lymphatic derivation of angiokeratoma corporis diffusum, Fordyce angiokeratoma and solitary angiokeratoma. However, the derivation of Mibelli angiokeratoma could not be determined based on the present immunohistochemical results.

Multifocal, co-located angiokeratomas and syringomas of the vulva

Multifocal, co-located angiokeratomas and syringomas of the vulva

Angiokeratoma circumscriptum in a young male

A 20-year-old male presented with multiple eruptions on his right leg since birth; these bled and were painful on trivial trauma. Examination revealed dark brown, hyperkeratotic, indurated, verrucous linear plaques with irregular borders. Histopathological evidence of hyperkeratosis, acanthosis, and extensive vascular proliferation in papillary dermis confirmed clinical suspicion of angiokeratoma circumscriptum (AKC). Excision and skin grafting yielded a cosmetically favorable outcome. Angiokeratomas, first described by Mibeli in 1889, are a group of vascular ectasias involving the papillary dermis. Angiokeratomas are more common in males; however, AKC–the rarest of its five variants–exhibits a female preponderance (F:M:3:1). AKC is an extremely rare nevoid disorder, only 100 of its cases having been reported in the world literature until 2006. Herein, we have reported a typical case of AKC in a young male that was previously misdiagnosed, and the patient wrongly counseled about the likelihood of its spontaneous regression.

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

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 α-galactosidase A (GLA) gene may be unclear. This uncertainty often leads to considerable distress and inappropriate counselling and treatment. We developed a clinical approach for these individuals with an uncertain diagnosis of FD. A document was presented to an FD expert panel with background information based on clinical experience and the literature, followed by an online survey and a written recommendation. The 13 experts agreed that the recommendation is intended for individuals with neuropathic pain, AK and/or CV only, i.e. without kidney, heart or brain disease, with an uncertain diagnosis of FD. Only in the presence of FD-specific neuropathic pain (small fibre neuropathy with FD-specific pattern), AK (FD-specific localisations) or CV (without CV inducing medication), FD is confirmed. When these features have a non-specific pattern, there is insufficient evidence for FD. If no alternative diagnosis is found, follow-up is recommended. In individuals with an uncertain diagnosis of FD, the presence of an FD-specific pattern of CV, AK or neuropathic pain is sufficient to confirm the diagnosis of FD. When these features are non-specific, a definite diagnosis cannot (yet) be established and follow-up is indicated. ERT should be considered only in those patients with a confirmed diagnosis of FD.

Linear verrucous hemangioma.

A 7-year-old boy presented with multiple warty lesions on an erythematous background over the right upper extremity. These lesions had been present since birth as erythematous rash. These lesions increased in size and number as well as became warty as the boy grew up. The course of the disease was complicated by recurrent ulcerations, minor bleeding and infection in the lesions. Other history was noncontributory. Cutaneous examination revealed several well-circumscribed, hyperkeratotic erythematous plaques present in a linear fashion over the medial aspect of the right upper extremity (extending from tip of fingers to axilla) [Figure 1]. Similar lesions were present over medial part of dorsum of right hand and to some extent, the forearm. Some of these plaques had central ulceration (crateriform plaques). Of note, palmar lesions were devoid of any verrucous lesions on their surface. Both upper limbs were of equal length and girth. Clinically, angiokeratoma circumscriptum neviforme (ACN) and linear verrucous hemangioma (LVH) were considered as differential diagnoses. Routine blood investigations did not reveal any abnormality. Histopathological examination revealed epidermal hyperkeratosis, parakeratosis, and irregular acanthosis. Dermis showed numerous dilated blood vessels of various sizes extending down into the subcutaneous tissues [Figure 2]. A diagnosis of linear verrucous hemangioma was made and boy was referred to department of plastic surgery for further management.Figure 1: Hyperkeratotic erythematous plaques in a linear pattern. Note: Some of the verrucous plaques are crateriformFigure 2: Hyperkeratosis, parakeratosis, acanthosis, and increased number of vascular spaces throughout the dermis and hypodermis without any inflammation. (H and E, ×100) Higher magnification of epidermis and upper dermis (inset A, H and E, ×100) and hypodermis showing increased blood vessels (inset B, H and E, ×100)Verrucous hemangioma is a rare vascular malformation involving whole of the dermis and hypodermis, with a predilection for the lower extremities. It is usually present at birth, but it may present later in adulthood also. The lesions initially appear as bluish red, well-demarcated, soft, and compressible swellings. Later on, they become verrucous and tend to increase in size and number. Secondary bleeding and infection are frequent complications.[1] The linear or serpiginous form of verrucous hemangioma (LVH) is extremely rare, and only a few cases have been reported. It is not known whether linear lesions actually follow Blaschko's lines or the linear arrangement represents genetic mosaicism.[2] The most important differential diagnosis for linear form is ACN. Clinically, both conditions are indistinguishable from each other. The histologic features of both conditions are similar, as both lesions show vascular spaces just beneath a papillomatous and hyperkeratotic epidermis. However, in contrast to ACN, the vascular spaces in LVH also involve the lower dermis and subcutaneous tissues. Deep excision is the most preferred modality of treatment for verrucous hemangiomas, as a superficial therapeutic approach would be unsuccessful because of the deep angiomatous proliferation.[13] Recently, treatment with a combination of CO2 and dual pulsed dye laser (PDL)-Nd YAG laser has provided a satisfactory response in some cases.[3]

Solitary angiokeratoma of the buccal mucosa: Report of a case

Background: Angiokeratoma is an asymptomatic, hyperkeratotic, capillary disorder of the skin present as solitary or multiple, keratotic papules or plaques, which may also be related to Fabry disease. Oral involvement may be observed in cases of widespread muco-cutaneous angiokeratomas, whereas solitary buccal angiokeratoma without systemic/ cutaneous involvement is extremely rare. Case Report: A 45-year-old woman was referred with a 3-month, painless, bluish lesion, located on left buccal mucosa. The medical record of the patient was free of any systemic disease or medication. After a careful clinical oral, mucosal as well as skin examination, an excisional biopsy was taken. A mutine haematoxylin-eosin staining and additional immunohistochemistry were performed. Differential diagnosis included haemangioma, haematoma or lesions of melanocytic origin. Clinical examination showed a solid, lobulated bluish lesion, located on left buccal mucosa without other skin or mucosal involvement. The microscopic findings revealed dilated vascular spaces covered by normal endothelium without atypia, extending into the epithelium, indicating the diagnosis of angiokeratoma. Conclusions: Despite its rare occurrence, solitary angiokeratoma of oral mucosa should be included in the differential diagnosis of black-bluish lesions. Further investigation for other similar lesions throughout skin or mucosa is needed to avoid complications as haemorrhage.

English

Introduction Angiokeratoma is a broad term that describes various conditions of asymptomatic hyperkeratotic vascular disorders with a histologic combination of hyperkeratosis and superficial dermal vascular ectasia. Here we are describing a case of recurrent angiokeratoma scroti. Case report A 34-year-old patient presented to the surgery department with multiple small papules over the scrotum with a previous history of two recurrences. They were slowly progressive, itchy and not associated with any bleeding. Examination revealed multiple soft compressible papules of 3–4 mm diameter with excoriation marks. Systemic examination and routine investigations were normal. Histologically, they were composed of numerous dilated thin walled congested capillaries mainly in the papillary dermis. Epidermis revealed variable degree of acanthosis and elongation of rete ridges and mild hyperkeratosis. Electrocauterisation of lesions was done and the follow-up period of three months was uneventful. Conclusion Although angiokeratoma scroti is not an uncommon entity, good treatment modality with minimal adverse effects in terms of complete resolution of diffuse lesions, recurrence, scarring, crusting, bleeding or cosmetic results is still not available. Introduction The term angiokeratoma is used to describe several distinct entities characterised by vascular nodules in the skin, with a histological picture of dermal vascular ectasia surmounted by hyperkeratosis of the epidermis. Angiokeratoma of the scrotum was originally described by Fordyce in 18961 reporting a case of 60-year-old man with multiple warty lesions confined to the scrotum only. Only a few cases of recurrent angiokeratoma had been reported since then. We describe here an adult male presenting with multiple papules over the scrotum with a previous history of two recurrences. Case report A 34-year-old male presented in the surgery department with moderate itching and multiple papules arranged diffusely over the scrotum. There was history of two recurrences five and three years back with the same complaints. Electrocauterisation of lesions was previously done two times, although no previous pathological reports were available. Each time, the follow-up period of four to six months had been uneventful. Even after complete post-operative healing, the patient continued to experience persistent discomfort, pruritis and psychological distress. Mere contact of the affected area with his underwear resulted in constant irritation. There was no history of trauma, episodic bleeding, similar lesions somewhere else on his body, inguinal hernia, genitourinary tumours, thrombophlebitis or varicocele. Physical examination revealed multiple, soft, bluish-red, compressible papules of 3–4 mm diameter with excoriation marks and focal thickening of skin, which might be due to previous surgical intervention. Systemic examination and routine investigations including urine examination and ultrasonography of scrotum were unremarkable. This time also, lesions were electrocauterised and excised biopsy tissue, consisting of multiple greyish white pieces of soft tissue measuring together 1.3 × 1.0 cm., was sent for histopathological examination to the pathology department. The whole tissue was processed. The biopsy submitted was stained with haematoxylin and eosin and revealed epidermis with mild hyperkeratosis, variable degree of acanthosis and elongation of rete ridges. Papillary dermis showed numerous dilated thin-walled congested capillaries in small groups separated by thin strands of connective tissue. Histology established the diagnosis of angiokeratoma of scrotum. Follow-up period of three months to assess the cosmetic result and to look for recurrences was uneventful. Discussion Patients of angiokeratoma usually present with small, bright red, vascular papules rarely larger than 3–4 mm. Angiokeratoma of scrotum are true ectasia of blood vessels. Initially, the lesions may be red, soft and compressible but later on may be firm, keratotic and sometimes warty2. These vascular lesions may be single and discrete or arranged in clusters. The most frequent symptom is a sensation of heaviness, tension in the scrotum accompanied by irritation along with bleeding of varying degree and superadded infection. Progressive worsening of symptoms, extension of the involved area, repeated episodes of cellulitis and infection cause psychological and emotional distress in the patient; sometimes requiring hospitalisation. * Corresponding author Email: drbrijeshthakur03@gmail.com NIIMS University, Jaipur, India

Second reported case of unilateral angiokeratoma of the vulva

Second reported case of unilateral angiokeratoma of the vulva

Solitary angiokeratoma on palms and soles: A clinicopathological analysis of 21 cases

Angiokeratoma includes a group of unrelated diseases characterized by hyperkeratosis and dilation of vessels in the superficial dermis. In this study, 21 cases of solitary lesions located on palms and soles and histopathologically diagnosed as angiokeratoma were analyzed retrospectively. All lesions presented as red to violet macules or plaques. Histopathologically, all of them showed hyperkeratosis and vascular dilation in the papillary to deep dermis. The elongated vessels were of different sizes and shape, lined by a single layer of endothelial cells. In 13 lesions, the endothelial cells protruded into the lumen, forming a hobnail appearance. Immunohistochemical study showed the endothelial cells were positive for CD31 and CD34, negative for D2-40, and focally positive for Wilms tumor 1 (WT-1) in most cases. Our cases represented a rare type of angiokeratoma located on the palms and soles, in which the focal positivity of WT-1 was different from previously reported vascular proliferations.

Angiokeratoma of the Scrotum: A Dermatologic Clue for Impaired Fertility

Background: Angiokeratoma of the Scrotum (AKS) is thought to be associated or aggravated with varicocele. The underlying pathogenesis is thought to be due to atrophy of Dartos muscle and degeneration of elastic tissue incidental to aging which results in loss of the support of the blood vessels. Aim of the work: To investigate the relation of (AKS) with underlying varicocele and probable associated male subfertility. Subjects and method: The present study, included 11 male patients with AKS all patients were subjected to scrotal duplex ultrasonography to evaluate underlying varicocele and semen analysis to detect probable subfertility. Results: The current study included eleven adolescent males aged 27 to 46 years old with AKS. Clinical assessment revealed that nine patients (82%) had varicocele while 2 patients (18%) were clinically free. The duplex ultrsonographic findings of the studied patients proved that clinically free patients (n:2) did not full-fill CDCCDU criteria for diagnosis of varicocele. The mean sperm concentration for the studied patients was 19×106/ml ranged from 2-35 millions/ml, progressive motility was 23.2% ranged from 5-50% and mean abnormal forms was 52.7% and the range was range 30-90. Conclusion: AKS is commonly associated with varicocele and impaired semen parameters and provides a clue on subfertility potential.

Solitary Angiokeratoma of Oral Mucosa: A Rare Presentation

Solitary angiokeratoma of oral mucosa is rare entity. The term Angiokeratoma is used to refer to several lesions, whose common denominator is the presence of dilated blood vessels in association with epidermal hyperplasia. Mucosal involvement, including oral cavity is occasionally found either as a component of the systemic variety, cutaneous involvement or isolated oral involvement. Clinically, the lesion is irregular, whitish to dark brown in color, with female predominance. The etiological factors include injury, trauma, or chronic irritation to the wall of a papillary dermis. Histologically, it is characterized by hyperkeratosis, acanthosis, and dilated vascular spaces with or without organizing thrombi in papillary dermis. The vascular spaces are partly or completely enclosed by elongated ret-ridges. Along with this reporting a case of solitary angiokeratoma affecting tongue in a 38-year-old male patient, along with the literature review is presented.

Une nouvelle localisation de l’angiokératome circonscrit næviforme

Angiokeratomas are papular telangiectasias having a common histology of ectasia of the superficial dermal vessels surmounted by a hyperkeratotic epidermis. The patient was a 9-year-old girl born of non-consanguineous parents after a well-followed pregnancy with problem-free delivery at term. From birth, she had a tumefaction of the left side of the nose and the left half of the upper lip that gradually increased in size without obstructing the nasal orifice and bled easily. Examination revealed the presence of tumefaction of the left nostril and the left half of the upper lip projecting towards the contralateral side especially in the nose. It was soft and painless, with the presence at the surface of dull red keratotic papules of 1 to 2 mm in diameter. Examination of the nasal mucosa revealed the same appearance of papules. Angiokeratoma circumscriptum is a rare congenital malformation, the rarest of five types. Since its initial description in 1890, few cases have been reported. However, female predominance has been noted with a male/female sex ratio of 1/3. It appears to be due to a genetic mutation that is probably autosomal, but the site of which is still unknown. In view of the special features of this case, several diagnoses were suggested, including Rendu Osler's disease, superficial lymphangioma and verrucous angioma. The particularity of this case is that it includes the first description of this site, which posed a therapeutic problem, especially concerning the choice of laser type to be used.

Variant Distribution of Skin Lesions in Angiokeratoma Circumscriptum: Report of an Untypical Case

Angiokeratoma circumscriptum is one of rare skin lesions mainly manifested in hyperkeratotic papules or nodules occurring frequently unilaterally on the foot or leg and most characteristically takes the form of an extensive vascular plaque. Herein, we report an untypical case of angiokeratoma circumscriptum. Different from the typical form of localized extensive vascular plaque and unilaterally location of the foot or distal aspect of the leg, the skin lesions of present case initiated in the left elbow and recently progressed to ipsilateral arm and trunk. In addition, the skin lesions are varied from multiple, discrete papules to confluent, protruding verrucous plaques. The physical and histopathological findings are consistent with a diagnosis of angiokeratoma circumscriptum. The untypical distribution of skin lesions indicates that the forms of angiokeratoma circumscriptum may be varient in clinic. Since present case shares similar appearances in cutaneous vascular lesions (angiokeratomas) with systemic angiokeratoma corporis diffusum (Fabry disease), the difference between the two entities is also discussed. doi:10.4021/jmc664w

Solitary angiokeratoma presenting as a cutaneous horn

Solitary angiokeratoma presenting as a cutaneous horn

Dermoscopy: A Useful Tool for the Diagnosis of Angiokeratoma

Angiokeratoma is a rare vascular malformation of the upper dermis that presents clinically as deep red to blue-black in color and tends to take a diverse configuration without self-limiting. Here, we reported dermoscopic findings by two cases of angiokeratoma; solitary angiokeratoma and angiokeratoma circumscriptum. A 24-year-old male presented with a 2-months history of 5 mm sized black colored papule on the right buttock. A dermoscopic pattern characterized by red and dark lacunae, whitish veil covered with scale. A 26-year-old woman presented with multiple, 2~10 mm, dark colored papules on the anterior neck with zosteriform fashion since childhood. A dermoscopic pattern presented by red lacunae intermingled with whitish veil. As a previous report, our two cases was the most common dermoscopic pattern of angiokeratoma; red lacunae and whitish veil. Angiokeratoma is often diagnosed as melanocytic nevi, Spitz nevi, malignant melanomas, pigmented basal cell carcinomas, seborrheic keratoses, dermatofibromas and other vascular lesions including hemangiomas and pyogenic granulomas. However, in the dermoscopic view, these above lesions hardly show red lacunae with whitish veils. Therefore, the dermscopic view is a useful differential method of angiokeratoma.

A Case of Solitary Angiokeratoma of the Oral Tongue Tip

Angiokeratoma is a rare, cutaneous disorder that typically manifests as multiple lesions and is often associated with a number of metabolic disorders. Although solitary cutaneous forms have been reported, localized lesions within the oral tongue have not been described so far. We report a 16-year-old male with a solitary pigmented lesion of his oral tongue tip. The lesion was a mixture of purple and white in color with a granulomatous appearance. Histopathological examination of the lesion obtained by excisional biopsy showed features consistent with angiokeratoma. We report a case of solitary angiokeratoma of the oral tongue tip and review the clinical and pathologic features of this unusual condition. � Korean J Otorhinolaryngol-Head Neck Surg 2012;55:111-3

Angiokeratoma circumscriptum naeviforme: A case report of a rare disease

Angiokeratomas are relatively rare vascular lesions characterized by ectasias of the papillary dermal blood vessels with secondary epidermal changes in the form of acanthosis and/or hyperkeratosis. Amongst the several variants of angiokeratomas, angiokeratoma circumscriptum is the least common one. Angiokeratoma circumscriptum naeviforme (ACN) is a still rarer type of angiokeratoma, which is typically seen at birth. We report here a case of linear, unilateral, verrucous plaques on the leg of a young man, diagnosed as ACN.

Large, solitary angiokeratoma in the posterior third and base of the tongue: case report

We present an extremely rare case of isolated angiokeratoma of the tongue. Case report and review of related literature. An 18-year-old, male adolescent presented with a fleshy, intermittently bleeding mass in the posterior third and base of the tongue. The lesion was initially suspected to be a lingual thyroid or haemangioma, but histopathological features were consistent with angiokeratoma. Magnetic resonance imaging revealed that the lesion extended up to the vallecula and involved the lamina propria and superficial tongue musculature. No similar lesions were found elsewhere in the body. No metabolic derangements were identified in the patient or his family. The 2.6 × 1.5 × 0.5 cm mass was excised under general anaesthesia. We present the 1st case of isolated lingual angiokeratoma in a male, the 4th such case overally, the largest ever documented. The lesion was situated in the posterior third and base of the tongue, a position not previously described.

A family with Fabry disease diagnosed by a single angiokeratoma

This case presents a 39-year-old gentleman with a single angiokeratoma on the abdomen. Because of a family history of early onset cardiac disease, testing for Fabry disease was performed and a mis-sense mutation (A143T) in the Fabry gene confirmed the diagnosis. The unusual aspect of this case is that the patient otherwise had normal health. His only detectable abnormality was a high serum creatinine at 116 mmol/L. Two further affected males and four carrier females were detected on family screening. We tested a further five patients with a single angiokeratoma for Fabry disease. In the five tested though, no suggestive personal or family history was given for any of the patients and no further cases were detected. This case highlights the need for vigilance within dermatology clinics to consider Fabry disease even if a solitary angiokeratoma is the only presenting feature. Some patients do display a milder phenotype and thus a detailed family history should always be taken. As in this case, a solitary angiokeratoma and a suspicious family history may be the only clue. Because enzyme replacement therapy is now available, the potential benefits for the patient and their family are high.