There's Blood in My Underwear

CLINICAL

There’s blood in my underwear

Christopher Dalby QUESTION 4 ANSWER 4 What is the pathogenesis of this condition? While the exact pathogenesis of this is unclear, angiokeratomas result from CASE QUESTION 5 vessel dilation and damaged vascular A man aged 75 years presented with What are the different variants? How are endothelial cells,2 and there appears to concerns after finding bright red blood the different variants distinguished? be an association with increased venous stains in his underwear. This had been pressure.4 occurring intermittently for the past few QUESTION 6 months, but had intensified over the last What are the management options? ANSWER 5 week. He reported no clots. He stated There are generally considered to be four he otherwise felt well and specifically QUESTION 7 other forms of angiokeratoma. These can reported no pain. He passed motions What differentials could be considered if be subdivided into localised and systemic regularly without difficulty, denied any there was uncertainty about the diagnosis? forms.2,3 blood in his stools and stated he had In addition to angiokeratoma of never had haemorrhoids. He had seen ANSWER 1 Fordyce, the localised forms are: no blood in his urine. He denied epistaxis The scrotal changes were consistent with • angiokeratoma circumscriptum – or bleeding from other areas. There was angiokeratoma of Fordyce.1 unilateral changes affecting one of the no unexplained bruising. He was on no lower limbs or trunk; found at birth, antiplatelet or anticoagulant therapy. ANSWER 2 they can become quite large A rectal exam was performed in Angiokeratomas are keratotic, vascular order to exclude a possible rectal origin, skin changes of dark violet to black and the results were unremarkable. appearance that arise as individual Skin changes to his scrotum were papules or in clusters.2 They are firm to noticed during this examination. Closer palpation and generally do not blanch on examination of the scrotum identified a compression.2 widespread rash consisting of vasculitic Angiokeratoma of Fordyce classically papules – both individual and in clusters refers to these changes when found on (Figure 1). These were subsequently the scrotum,3 although it can also refer to considered to be the origin of the angiokeratomas on the labia majora, inner bleeding. thigh and lower abdomen.2,3 They tend to be symptomless and are often only noticed QUESTION 1 after they bleed from minor trauma, such What is this condition? as intercourse.2,3

QUESTION 2 ANSWER 3 What is the typical clinical appearance This condition is much more common in and distribution of this condition? men and has an increasing prevalence with

age, affecting 0.6% of males aged 16 years Figure 1. The vasculitic papular rash found on QUESTION 3 and rising to 16.7% of men over 70 years examination of the scrotum How prevalent is this condition? of age.4

130 | REPRINTED FROM AJGP VOL. 48, NO. 3, MARCH 2019 © The Royal Australian College of General Practitioners 2019 THERE’S BLOOD IN MY UNDERWEAR CLINICAL

• angiokeratoma Mibelli – lesions affecting • hereditary hemorrhagic telangiectasia the dorsal surfaces of the hands and • lymphangioma circumscriptum feet; they tend to arise during childhood • pigmented basal cell carcinoma or adolescence predominantly, but not • Spitz nevi exclusively, in young girls • seborrheic keratosis • sporadic angiokeratoma – clinically • dermatofibromas resemble the Mibelli type and are most • pyogenic granuloma.6 commonly found on the legs, although Biopsy and/or referral to a dermatologist they can affect any part of the body; should be considered if there is doubt they tend to arise between the second about the diagnosis. and fourth decades. The systemic form is angiokeratoma In summary corporis diffusum. This manifests in the • Angiokeratoma of Fordyce is considered context of Fabry disease, a rare, serious, a benign condition. recessive X-linked condition that results • Intervention is only required if there is in a deficiency of lysosomal enzyme bleeding or cosmetic concerns. alpha-galactosidase A, which leads to an • Widespread angiokeratomas should accumulation of glycolipid in many tissues, raise suspicion for the serious genetic including skin, heart and kidneys.5 There condition Fabry disease, which warrants is a subsequent broad scope of potential urgent specialist opinion if suspected. complications, including renal failure, cardiomyopathy, gastrointestinal distress Author and neuropathy.5 The vascular lesions Christopher Dalby DCH, BPharm, MBBS, FRACGP, Associate Lecturer, University of Queensland, associated with this condition occur on the Qld; Crestmead Medical Centre, Crestmead, Qld. trunk and proximal limbs and manifest [email protected] before puberty.5 Competing interests: None. Funding: None. Provenance and peer review: Not commissioned, ANSWER 6 externally peer reviewed. As described, angiokeratoma corporis diffusum is a serious genetic condition References with the potential for multiple-organ 1. Ngan V. Angiokeratoma. New Zealand: DermNet NZ, 2003. Available at www.dermnetnz.org/ involvement because of the widespread topics/angiokeratomas [Accessed 24 June 2018]. inappropriate glycolipid deposition. 2. Ingraffea A. Benign skin neoplasms. Facial As this condition benefits from early Plast Surg Clin North Am 2013;21(1):21–32. doi: 10.1016/j.fsc.2012.11.002. intervention, a high suspicion should 3. Schiller PI, Itin PH. Angiokeratomas: be maintained when widespread An update. Dermatology 1996;193(4):275–82. angiokeratomas are found, with early doi: 10.1159/000246270. 4. Erkek E, Basar MM, Bagci Y, Karaduman A, subsequent specialist referral. Bilen CY, Gokoz A. Fordyce angiokeratomas Otherwise, angiokeratomas are as clues to local venous hypertension. Arch Dermatol 2005;141(10):1325–26. doi: 10.1001/ generally harmless lesions that do not archderm.141.10.1325. 1,2 mandate intervention. However, 5. Demczko M. Fabry disease. Kenilworth, NJ: if there is bleeding or they are of Merck Manual Online, 2013. Available at www. merckmanuals.com/professional/pediatrics/ cosmetic concern, options can include inherited-disorders-of-metabolism/fabry-disease cryotherapy, laser therapy, electro [Accessed 24 June 2018]. cautery or excision.1,2 6. Leung AKC, Barankin B. Angiokeratoma of Fordyce. Clin Case Rep Rev 2015;1(1):4–5. doi: 10.15761/CCRR.1000102. ANSWER 7 Some presentations of angiokeratoma of Fordyce may appear similar to a range of other pigmented lesions, including: • melanocytic nevi • malignant melanoma • verruca vulgaris • condylomata acuminatum • verrucous hemangiomas correspondence [email protected]