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.

Angiokeratoma Circumscriptum Naeviforme Presenting as a Dark Warty Plaque on the Leg.

Dear Editor, A 45-year-old man presented with a large, dark, keratotic, warty, and friable plaque on the distal posterior aspect of the left leg (Figure 1, a). The patient reported that the lesion was not present at birth but had appeared approximately at the age of three as an erythematous patch that progressively grew over the time. During adolescence, the surface of the lesion became rough and warty and was easily traumatized due to its location, resulting in recurrent bleeding episodes over a period of years. For this reason, the patient requested lesion removal. The patient did not report any other significant comorbidity, and physical examination revealed no other abnormalities. A shaving biopsy of the lesion was performed, and histopathology highlighted ectatic vascular spaces with some luminal red blood cell beneath a papillomatous and hyperkeratotic epidermis (Figure 1, b). Based on clinical and histopathological features, a diagnosis of angiokeratoma circumscriptum naeviforme (ACN) was established. ACN is one of the five disorders belonging to the group of angiokeratomas (AKs) that also include AK of Mibelli, AK of Fordyce, solitary or multiple AK, and AK corporis diffusum. Among these variants, ACN is the rarest and is seldom studied (1). AKs are benign vascular anomalies of the superficial vascular plexus that appear as dark red papules and plaques arranged either discretely or in clusters. ACN lesions are typically situated unilaterally on the lower limbs, especially on the legs and feet, but can occasionally occur elsewhere. Lesions are generally noted in early childhood. The early lesions are flat and reddish in color, while older lesions become increasingly studded and acquire a verrucous or warty surface. There is no tendency of spontaneous improvement, and minor traumas can easily cause beading and infection (2). While the plaques were linear in disposition in most of the cases reported in the literature, a peculiar feature of our case was the isolated, round, and giant appearance of the plaque. Even though ACN is not typically associated with other abnormalities, coexistence with other vascular malformations has been reported in some cases, including AK of Fordyce, Cobb syndrome, Klippel-Trenaunay syndrome, nevus flammeus, infantile hemangioma, and traumatic arteriovenous fistula (3). From a histological point of view, ACN appears as dilated dermal papillary capillaries drained by dilated venules. The overlying epidermis shows a variable degree of acanthosis, papillomatosis, and compact hyperkeratosis. Typically, the deep dermis and hypodermis are not involved, helping distinguish them from verrucous hemangioma (4). Lichen simplex chronicus, verrucous carcinoma, and verrucous melanoma must also be considered in the differential diagnosis (5). Recurrent bleeding or cosmetic reasons are common indications for treatment. Surgical excision represents the most effective option. Other possibilities include diathermy, electrocautery, cryosurgery, or laser (6). In our case, there was no macroscopic residual disease after the shaving biopsy. A collagen dressing was applied, and the wound underwent second intention healing in three weeks. There was no evidence of local recurrence after 18 months. References: Das A, Mondal AK, Saha A, Chowdhury SN, Gharami RC. Angiokeratoma circumscriptum neviforme: An entity, few and far between. Indian Dermatol Online J. 2014;5:472-4. Mittal R, Aggarwal A, Srivastava G. Angiokeratoma circumscriptum: a case report and review of the literature. Int J Dermatol. 2005;44:1031-4. Wankhade V, Singh R, Sadhwani V, Kodate P, Disawal A. Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome? Indian Dermatol Online J. 2014;5(Suppl 2):S109-S112. Oppermann K, Boff AL, Bonamigo RR. Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme. An Bras Dermatol. 2018;93:712-5. Goldman L, Gibson SH, Richfield DF. Thrombotic angiokeratoma circumscriptum simulating melanoma. Arch Dermatol. 1981;117:138-9. del Pozo J, Fonseca E. Angiokeratoma circumscriptum naeviforme: successful treatment with carbon-dioxide laser vaporization. Dermatol Surg. 2005;31:232-6.

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.

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.

Adolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus.

BACKGROUND: We present an adolescent with multiple vulvar angiokeratomas within a background of lichen sclerosus. CASE: A 13-year-old girl presented with vulvar pruritus and wart-like vulvar lesions. Four lesions were resected because of discomfort and uncertainty of the diagnosis. Pathology revealed angiokeratomas with chronic inflammation suggestive of lichen sclerosus. Postoperatively, pruritus continued in the largest excised lesion, which was associated with lichen sclerosus, and symptoms were treated successfully with topical steroids. SUMMARY AND CONCLUSION: Vulvar angiokeratomas are asymptomatic red papular lesions and are rare in the female adolescent population. In this case, the pathology revealed the rare co-occurrence of angiokeratomas and lichen sclerosus. Biopsies of vulvar vascular lesions in symptomatic adolescents are recommended. Vulvar angiokeratomas might manifest rare genetic disease in otherwise asymptomatic female patients and warrant further follow-up.

ß-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

ß-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme ß-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the clinical presentation is heterogeneous, common symptoms include various degrees of developmental delay, behavioral disturbances, hearing loss, and frequent infections. We report a 15-yr-old girl presenting with mild intellectual disability, sensorineural hearing loss, severe behavioral disturbances, dysmorphic traits, and evolving angiokeratomas. Copy-number variation analysis of next-generation sequencing (NGS) data indicated increased coverage in exons 8-11 of MANBA Low ß-mannosidase activity (1 µkatal/kg protein, refv 25-40) established the diagnosis of ß-mannosidosis. Whole-genome sequencing (WGS) and cDNA analysis revealed a novel homozygous intragenic inverted duplication in MANBA, where a 13.1-kb region between introns 7 and 11 was duplicated and inserted in an inverted orientation, creating a 67-base nonduplicated gap at the insertion point. Both junctions showed microhomology regions. The inverted duplication resulted in exon skipping of exons 8-9 or 8-10. Our report highlights the importance of copy-number variation analysis of data from NGS and in particular the power of WGS in the identification and characterization of copy-number variants.

Angiokeratomas, not everything is Fabry disease.

INTRODUCTION: Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals. METHODS AND CASE: We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case. DISCUSSION: Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation. CONCLUSION: This is an academic-clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up-to-date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.

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.

[Acquired facial angiokeratoma]. / Angiokératome acquis de la face.

Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload disease known as Fabry Disease. Here we report the case of a 56-year old patient, with no notable medical history, presenting with nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules without extracutaneous manifestations on the left malar region, that had occurred 4 months before. Diascopy revealed partially emptied papules with keratotic surface. Kaposi syndrome, melanoma, carcinoma or angiokeratoma were suspected. Histological examination revealed angiokeratoma. Treatment based on electrocoagulation was proposed to the patient.

Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme

Abstract: Verrucous hemangioma is a rare vascular skin disorder with an immune profile similar to vascular neoplasms, but with behavior and evolution of vascular malformations. Its main differential diagnosis is angiokeratoma circumscriptum neviforme, with an almost indistinguishable clinical presentation because both diseases appear as erythematous patches that evolve to violaceous plaques, becoming scaly and even verrucous, most commonly affecting the lower limbs. Histopathology is crucial for the correct diagnosis: while in angiokeratoma the vascular alterations are limited to the papillary dermis, verrucous hemangioma extends deep into the dermis, reaching the subcutaneous tissue.