Angiokeratomas are present in approximately 0.16% of the population, with only 14% classified as the Fordyce type. Angiokeratomas of Fordyce are mainly found on the scrotum, with very rare occurrences on the glans penis or penile shaft. Currently, there are no established guidelines in the management of angiokeratomas. Since angiokeratomas are vascular in nature, lasers which target the chromophore oxyhemoglobin can be used, hence the use of the 578-nm yellow laser in this case.

This is a case of a 34-year-old Filipino male with a 22-year history of violaceous papules on the penile shaft gradually increasing in size, with complaints of bleeding from the lesions during coitus, significantly affecting the patient’s quality of life. Physical examination revealed few, well-defined, round, violaceous hyperkeratotic papules on the penile shaft, the largest measuring 4x4x4 mm. Dermoscopy revealed several, well-demarcated, round, erythematous to violaceous lacunae with whitish veil. Histopathology also revealed findings consistent with angiokeratoma.

Non-scrotal or penile angiokeratoma of Fordyce is a very rare benign vascular tumor that can adversely affect patients’ quality of life, particularly due to the potential discomfort brought about by bleeding during coitus. Traditional therapeutic modalities may lead to scarring, hence the emerging trend on the use of vascular lasers. After two sessions of yellow laser, our patient expressed satisfaction with the results with an improved overall quality of life. The effectiveness, minimal scarring potential, and relatively safe side effect profile of these vascular lasers make them a promising treatment option for angiokeratomas.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma α-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.
Angiokeratoma ; Child ; Cornea ; Fabry Disease* ; Humans ; Hypertrophy, Left Ventricular ; Hypohidrosis ; Lysosomal Storage Diseases ; Male* ; Mothers ; Neurologic Manifestations ; Plasma ; Siblings

No abstract available.
Angiokeratoma ; Child ; Humans

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.
Adult ; Angiokeratoma ; Burns ; Cornea ; Ear ; Echocardiography ; Electrocardiography ; Exons ; Extremities ; Fabry Disease* ; Galactosidases ; Genetic Counseling ; Hematuria ; Humans ; Hypertrophy, Left Ventricular ; Informed Consent ; Male ; Metabolism ; Outpatients ; Physical Examination ; Plasma ; Proteinuria ; Thorax

BACKGROUND: Angiokeratomas are vascular malformations that usually appear as multiple or solitary cutaneous papules, nodules, or plaques. Several clinical variants of angiokeratoma exist. The differential diagnosis of angiokeratoma can be difficult and some cases that are clinically suggestive of angiokeratoma are found to be caused by other diseases following skin biopsy. OBJECTIVE: The purpose of this study was to examine the diagnostic yield following analysis of clinically diagnosed angiokeratomas, which presented as multiple or solitary cutaneous papules, nodules, or plaques. METHODS: We retrospectively reviewed 36 patients who had visited the department of dermatology between January 2004 and December 2013, and who, following biopsy, had a clinical diagnosis of angiokeratoma or a differential diagnosis of angiokeratoma. We compared the clinical and histopathologic diagnoses, and analyzed the rate of concurrence and clinical features, including age, sex, location, and duration. RESULTS: The angiokeratoma patients accounted for 61.1% of all new patients and their mean age was 32.2 years. The most common subtype was solitary angiokeratoma (11 cases, 50%). Histopathologic analysis showed that 38.9% of patients had a different type of disease and their mean age was 31.4 years. The most common causes of disease for this latter group were pyogenic granuloma (21.4%) and hemangioma (21.4%), followed by calcinosis cutis, dermatofibroma, neurofibroma, pilomatricoma, verruca vulgaris, and herpes viral infection. CONCLUSION: Lesions suggestive of angiokeratoma need further examination and a biopsy is useful to determine the correct differential diagnosis between angiokeratoma and other diseases, to avoid erroneous management.
Angiokeratoma* ; Biopsy ; Calcinosis ; Dermatology ; Diagnosis ; Diagnosis, Differential ; Granuloma, Pyogenic ; Hemangioma ; Histiocytoma, Benign Fibrous ; Humans ; Neurofibroma ; Pilomatrixoma ; Retrospective Studies ; Skin ; Vascular Malformations ; Warts

Angiokeratoma is a benign cutaneous lesion of the capillaries, presenting as dilated vessels in the upper part of the dermis. Although this disorder is classified into various types and has been occasionally reported in the skin of the scrotum or extremities, the involvement of the oral cavity mucosa has been rarely reported. The present study reports a case of angiokeratoma circumscriptum in the buccal mucosa. The expression of vascular endothelial growth factor (VEGF) and both of its receptors (VEGFR-1 and VEGFR-2) was demonstrated by immunohistochemistry in the endothelial cells lining the dilated vessels. The expression of VEGFR-2 was higher than that of VEGFR-1 in the endothelial cells in the lesion, indicating an increased rate of endothelial cell proliferation within the lesion. Interestingly, some of the endothelial cells co-expressed VEGF and its two receptors. These results suggest that endothelial cells in the pathologically dilated vessels possess VEGF autocrine growth activity involved in vasculogenesis and maintenance in angiokeratoma lesions. To our knowledge, this is the second report published on isolated oral angiokeratoma confined to the buccal mucosa and the first case report on angiokeratoma circumscriptum involving the buccal mucosa.
Angiokeratoma* ; Capillaries ; Dermis ; Endothelial Cells ; Extremities ; Immunohistochemistry ; Mouth ; Mouth Mucosa* ; Mucous Membrane ; Scrotum ; Skin ; Vascular Endothelial Growth Factor A ; Vascular Endothelial Growth Factor Receptor-1 ; Vascular Endothelial Growth Factor Receptor-2

A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological evaluation of the skin lesions revealed angiokeratomas. When this combination of clinical and histological findings is observed, Fabry disease is suspected. Biochemical examination performed for definitive diagnosis did not show any activity of the alpha-galactosidase A enzyme. Through identification of a c.182_183ins(GA) mutation of the GLA gene, Fabry disease was diagnosed. However, there was no particular abnormal finding with regard to the evaluation of non-cutaneous manifestations, a symptom that can occur in the progress of this disease. We reported a case of Fabry disease, restricted to the dermatologic presentation, involving a novel frameshift mutation in the GLA gene.
alpha-Galactosidase ; Angiokeratoma ; Asian Continental Ancestry Group ; Fabry Disease ; Frameshift Mutation ; Humans ; Hypohidrosis ; Male ; Skin ; Skin Manifestations

A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological evaluation of the skin lesions revealed angiokeratomas. When this combination of clinical and histological findings is observed, Fabry disease is suspected. Biochemical examination performed for definitive diagnosis did not show any activity of the alpha-galactosidase A enzyme. Through identification of a c.182_183ins(GA) mutation of the GLA gene, Fabry disease was diagnosed. However, there was no particular abnormal finding with regard to the evaluation of non-cutaneous manifestations, a symptom that can occur in the progress of this disease. We reported a case of Fabry disease, restricted to the dermatologic presentation, involving a novel frameshift mutation in the GLA gene.
alpha-Galactosidase ; Angiokeratoma ; Asian Continental Ancestry Group ; Fabry Disease ; Frameshift Mutation ; Humans ; Hypohidrosis ; Male ; Skin ; Skin Manifestations

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.
Adult ; Angiokeratoma ; Buttocks ; Carcinoma, Basal Cell ; Dermis ; Dermoscopy ; Female ; Granuloma, Pyogenic ; Hemangioma ; Histiocytoma, Benign Fibrous ; Humans ; Keratosis, Seborrheic ; Male ; Melanoma ; Neck ; Nevus ; Nevus, Pigmented ; Vascular Malformations ; Young Adult

Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome. It is characterized by a short stature, gonadal dysgenesis, and frequently by webbed neck, cubitus valgus, lymphedema, broad chest with wide spaced nipples, micrognathia, and brachimetacarpalia. Several cutaneous manifestations are associated with TS, including melanocytic nevi, hypertrophic scarring, and vitiligo. Rarely reported findings include hemangiomas, angiokeratomas, and halo nevi. We present a case of halo nevi and vitiligo in a 13-year-old girl with TS. To the best of our knowledge, halo nevi and vitiligo in TS has not been reported in the Korean literature.
Adolescent ; Angiokeratoma ; Cicatrix, Hypertrophic ; Gonadal Dysgenesis ; Hemangioma ; Humans ; Lymphedema ; Neck ; Nevus, Halo ; Nevus, Pigmented ; Nipples ; Thorax ; Turner Syndrome ; Vitiligo ; X Chromosome