Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.

RATIONALE: Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions. PATIENT CONCERNS, DIAGNOSES, INTERVENTIONS, AND OUTCOMES: Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagulation for atrial fibrillation. LESSONS: Careful observation for gastrointestinal bleeding is warranted for patients on anticoagulation with extensive cutaneous angiokeratomas. Furthermore, our experience suggests that surveillance is needed to assess the prevalence and extent of gastrointestinal angiokeratomas in patients with FD.

Angioqueratomas de fordyce múltiplos de vulva associados à cirrose hepática.

Fordyce angiokeratoma is a benign skin neoplasm, characterized by erythematous-violet keratotic papules with mamillated surface, which follows a chronic and minimally symptomatic course. However, symptoms can be related such as itching, burning, bleeding, dyspareunia; aesthetic and social concerns may prompt request for treatment. The condition mainly affects men and usually occurs in the scrotum, but rarely may occur in women. A 30-year-old woman with liver cirrhosis and portal hypertension is described. Over a period of two years she developed multiple angiokeratomas of the vulva, complicated by frequent bleeding. Histopathologic analysis of the lesion confirmed the diagnosis of angiokeratoma and all lesions were surgically removed. The results of the treatment were very satisfactory, with no relapses or complications.Angioqueratoma de Fordyce é uma dermatose incomum que compõe o grupo das neoplasias cutâneas benignas, caracterizando-se pelo aparecimento de lesões papuloceratósicas, eritemato-violáceas de superfície mamilonada, que apresentam curso crônico e oligossintomático. No entanto, outros sintomas podem estar associados, como prurido, ardência, sangramento e dispareunia, além de problemas estéticos e de ordem social. Afeta principalmente homens, acometendo a região escrotal, sendo raro seu surgimento em mulheres. Relata-se caso de uma paciente com 30 anos de idade, portadora de cirrose hepática e hipertensão portal evoluindo há 2 anos com múltiplos angioqueratomas na vulva de sangramento frequente. A análise histopatológica confirmou o diagnóstico de angioqueratoma e a paciente foi submetida à exérese cirúrgica das lesões. Os resultados terapêuticos foram satisfatórios, sem recidivas ou complicações.

Linear acral pseudolymphomatous angiokeratoma of children with associated nail dystrophy.

Acral pseudolymphomatous angiokeratoma of children (APACHE) is a rare entity that typically occurs on the extremities of young females. Although linear arrangement of cutaneous lesions has been rarely reported, accompanying nail dystrophy has not been linked with this condition to our knowledge. We describe a case of linearly-oriented infiltrative papules and nodules on the index finger of a young female with associated onychodystrophy. Histology demonstrated a heavy lymphocytic infiltrate with plasma cells and proliferation of blood vessels consistent with APACHE. Our case is unique given the linear array of cutaneous lesions and associated nail dystrophy.

Angiokeratoma of the nasal vestibule: a case report.

Angiokeratomas are benign mucocutaneous lesions which are composed of enlarged veins in the dermis of the skin. Although angiokeratomas may be part of a systemic disease, it is important to distinguish them from other vascular lesions. In this report, we present a rare case of angiokeratoma of the nasal vestibule. To our knowledge, this is the first nasal angiokeratoma case in the literature. The diagnostic and treatment features of this case and the association of angiokeratoma with systemic diseases like Fabry disease were discussed.

[Fegelers syndrome, acquired port-wine stain or acquired capillary malformation: three cases and a literature review]. / Syndrome de Fegeler, angiome plan acquis ou malformation capillaire acquise : trois observations et revue de la littérature.

BACKGROUND: Port-wine stains or capillary malformations are generally congenital. Very few cases of acquired port-wine stains in adults have been described, and these occur particularly after trauma. PATIENTS AND METHOD: We report three cases of acquired port-wine stains and we performed a review of the literature using the keywords "port-wine stain", "capillary malformation", "angioma" and "acquired" in the Medline database PubMed. All relevant articles were included. RESULTS: Two male patients and one female patient consulted for one or more angiomatous lesions, located respectively on the upper rear part of the right thigh (case 1), the left leg (case 2) and the right side of the face, skull and chest (case 3). Each patient's skin biopsy was consistent with port-wine stain. The three patients asserted the acquired nature of the lesions: the male patients were respectively 17 and 38 years old, and the female patient was 11 years old. No causative factors were evident preceding the lesion, and there was no family history of port-wine stain. The topography was systematic in patients 2 and 3. The lesions were light red in patient 1, dark red in patient 2 and pale pink in patient 3. The remainder of the physical examination was unremarkable, except for benign angiokeratoma of the scrotum in case 1 and pigmented leucoderma-type macules in case 3. LITERATURE RESULTS: Sixty-six cases of acquired port-wine stains were reported in the literature. The average age was 25 years (3-69) with a sex-ratio of 0.88. Generally, no causative factor was given. However, trauma (30.5%), estrogenic impregnation (16.5%), and more rarely, medication, solar damage, frostbite, cluster headache, herpes zoster and acoustic neuroma were reported as causatives factors. DISCUSSION: Acquired port-wine stain is rare. Although often idiopathic, it can result from spinal trauma, which must be explored if suggested by the history. In our series, the clinical presentation suggested a latent congenital vascular malformation of late onset, in particular in patients 2 and 3, because of the segmental distribution.

Development of hemangioma in a tongue harboring long-standing angiokeratoma circumscriptum.

Angiokeratoma is a very rare vascular lesion of the papillary dermis. It is characterized by vascular ectasia with overlying epidermal hyperkeratosis. The systemic form of angiokeratoma is associated with Fabry disease and fucosidosis. There are several localized forms. Tongue involvement is uncommon. Hemangiomas are tumors made up of capillaries; they grow by active endothelial proliferation as opposed to expansion of vascular spaces in vascular malformations. Lingual hemangiomas are usually indolent, but they can cause cosmetic deformities, recurrent hemorrhage, and functional problems with speaking, mastication, and deglutition. We report a case of angiokeratoma of the tongue with an underlying hemangioma in a 30-year-old woman. Angiokeratomas have been reported to develop over arteriovenous malformations and in the area of lymphangioma circumscriptum following repeated local trauma. To the best of our knowledge, the development of a lingual hemangioma in a patient with long-standing angiokeratomatous lesions has not been previously reported in the literature.

Angiokeratoma of the clitoris with evident vulvar varicosity.

Angiokeratomas of the vulva are uncommon, benign vascular lesions that are generally located on the labia. However, the clitoris is an extremely rare location, with only three published cases. We report a case of clitoral angiokeratoma in a 22-year-old nulligravida with a history of surgery to remove a clitoral mass at 6 years of age. The case described herein is distinguished from the other case reports by an accompanying varicose structure involving the vulva.

Acral angiokeratomas in a patient with Turner syndrome.

Several types of vascular anomalies have been described in patients with Turner syndrome, including cutaneous lymphatic malformations, vascular anomalies of the heart and aorta, acral venous malformations, and intestinal vascular anomalies. Angiokeratomas have rarely been reported in patients with Turner syndrome. Here, we describe a 14-year-old girl with Turner syndrome who presented with a 2-year history of tender bluish-black keratotic acral papules. Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma. Lysosomal enzyme assays were normal, and she did not demonstrate any other features of a lysosomal storage disorder.

[Punctate maculae on the back of the hands of a 44-year-old woman]. / Punktförmige Makulae an den Handrücken einer 44-jährigen Frau.

A 44-year-old woman developed punctate erythematous maculae on the backs of her hands, arms and shoulders following a pregnancy. Laboratory evaluation was unremarkable. Our differential diagnosis includes idiopathic teleangiectases, teleangiectasia eruptiva perstans, angioma serpiginosum and angiokeratoma corporis diffusum Fabry. Microscopic examination showed increased numbers of the small vessels of the upper vascular plexus with dilated capillaries. This coupled with the clinical findings led us to the diagnosis of angioma serpiginosum with symmetrical distribution involving the shoulder girdle, upper aspects of the arms, and the backs of the hands. We treated with a pulsed dye laser and noted some regression after two sessions.

Association of angiokeratoma of the vulva with angioma serpiginosum.

Angioma serpiginosum is a rare benign vascular disorder usually beginning in childhood. It is characterized clinically by multiple minute, bright red to purple, grouped macules and histopathologically by an ectatic dilatation of capillaries. Angiokeratoma of the vulva is an uncommon lesion occurring in older women. It consists of purple papular lesions measuring less than 1 cm in diameter and characterizing histopathologically by hyperkeratosis, papillomatosis, acanthosis, and dilated vasculature in the papillary dermis.

Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment.

Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound (>80 dB), congenital, mixed conductive/sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.