Correspondence
References 1 Ionescu DN, Mohan D, Carter G, et al. Epidermoid metaplasia of the cervix. Arch Pathol Lab Med 2004; 128: 1052–1053. 2 Belousova IE, Kazakov DV, Michal M. Ectopic sebaceous glands in the vagina. Int J Gynecol Pathol 2005; 24: 193– 195. 3 Rose M, Moore G. Epidermalization of cervix and vagina: an unsolved dilemma. J Low Genit Tract Dis 2008; 12: 217–219.
Hereditary benign telangiectasia in monozygotic twins with no family history
We present the case of 3-year-old twin girls (monochorionic diamniotic) with no past family or personal history of interest who presented asymptomatic skin lesions that appeared almost simultaneously a year before the consultation. The number and size of the lesions had increased since initial onset. The parents reported no previous trauma and no family history of similar lesions. Neither of the twins had a history of mucosal bleeding (oral or gastrointestinal bleeding or epistaxis). Physical examination showed erythematous pink macules with superficial telangiectasias on the neck, trunk, and upper extremities, the borders were burred, and the distribution was random, bilateral, and asymmetric (Fig. 1). Some lesions were surrounded by anemic halos (Fig. 1c). The lesions did not disappear when pressure was applied. No mucosal lesions were detected. Histological examination showed a normal epidermis and thinwalled dilated capillaries and postcapillary venules in the superficial dermis (Fig. 2). Eighteen months later, the lesions were stable and remained asymptomatic. Hereditary benign telangiectasia (HBT), a rare autosomal dominant genetic disorder first described by Wells and Dowling1 in 1971, is classified as a primary telangiectasia and considered a benign form of hereditary hemorrhagic telangiectasia.2 The lesions are acquired in childhood by patients with no history of hemorrhage or
(a)
(b)
systemic disease. The cutaneous presentation can be very polymorphic (ranging from erythematous maculae to spider or punctiform telangiectasias), and the mucosas are not affected. The main histologic feature is dilatation of the vessels in the subpapillary venous plexus. The lesions are invariably asymptomatic but may constitute a cosmetic problem. Brancati et al.3 identified a link between HBT and the locus for capillary malformation (CM; named CMC1) on chromosome 5q14. The differential diagnosis should primarily include CMs. There is some debate as to whether CMs and HBT constitute two separate disorders or represent two forms of a single entity: an overlap between these two phenotypes has been reported in many families, a link with the same locus (CMC1) on chromosome 5 has been identified in both diseases, and the histologic features are the same in both conditions. These findings have led some authors to posit that CMs and HBT are in fact different presentations of a single disorder.3 Acquired port wine stain lesions that are not present at birth are relatively rare and have generally been associated with previous trauma. Furthermore, such lesions usually have a unilateral distribution and appear on the face or neck. Families in which
Figure 2 Dilated capillaries in the upper dermis (Hematoxylin-eosin, 9200)
(c)
Figure 1 (a,b) Erythematous macules with telangiectasias on the chin and arm of the first twin. (c) Telangiectatic lesion with anemic halo on the back of the second twin. The arrow shows the site of skin biopsy ª 2014 The International Society of Dermatology
International Journal of Dermatology 2015, 54, e94–e108
e95
e96
Correspondence
such hereditary malformations present in an autosomal dominant pattern have also been reported, and such cases are difficult to differentiate from HBT. The bilateral clinical presentation, presence of telangiectasias, absence of previous trauma, and appearance of the lesions in both twins makes HBT a more likely diagnosis in our two patients. We have found only two reports in the literature of HBT in patients with no family history4,5 and none in monochorionic twins.
Federica Liuti, MD Pablo J. Almeida, MD Leopoldo Borrego, MD Department of Dermatology Complejo Hospitalario Universitario Insular Materno-Infantil Las Palmas de Gran Canaria Spain Tarsila Montenegro, MD Department of Pathology Complejo Hospitalario Universitario Insular Materno-Infantil Las Palmas de Gran Canaria Spain Federica Liuti, MD Department of Dermatology Complejo Hospitalario Universitario Insular Materno-Infantil Las Palmas de Gran Canaria Spain E-mail: [email protected]
Eosinophilic annular erythema: complete clinical response with dapsone
Editor, Eosinophilic annular erythema (EAE) is a rare entity of unknown etiology which presents as annular erythematous plaques with tissue eosinophilia. There is controversy over whether EAE should be classified as a new and distinct entity or as a subtype of Wells syndrome. Responses to treatment are variable, and the best reported outcomes are those that occur in response to hydroxychloroquine. A 29-year-old woman with a history of type 1 diabetes mellitus and chronic renal failure was evaluated for a 12-month history of itching and erythematous, annular, polycyclic plaques on the trunk and proximal extremities (Fig. 1). The patient had been treated with oral cortico-steroids and hydroxychloroquine for two months without response. Biopsy material from skin lesions showed minimal alterations in the epidermis (orthokeratosis and mild spongiosis), and changes in the superficial and deep dermis with superficial perivascular and perifollicular infiltrate composed predominantly of eosinophils and a few lymphocytes. There were no signs of vasculitis, flame figures, dermal mucin, or vacuolar changes (Fig. 2). Based on the clinical and histopathological findings, a diagnosis of EAE was made. In this case, given the patient’s history of a poor response to treatment with hydroxychloroquine and poor metabolic control, we initiated dapsone at a dose of 25 mg/d for three weeks. This achieved the resolution of the lesions, which has been sustained over eight months of follow-up (Fig. 3).
Funding sources: None. Conflicts of interest: None. References 1 Wells RS, Dowling GB. Hereditary benign telangiectasia. Br J Dermatol 1971; 84: 93–94. 2 Requena L, Sangueza OP. Cutaneous vascular anomalies. Part I. Hamartomas, malformations, and dilation of preexisting vessels. J Am Acad Dermatol 1997; 37: 549–552. 3 Brancati F, Valente EM, Tadini G, et al. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. J Med Genet 2003; 40: 849–853. 4 Nakajima I, Okuyama R, Terui T, et al. The first report of non-hereditary benign telangiectasia. J Eur Acad Dermatol Venereol 2006; 20: 1329–1331. 5 Cai L, Sun QM, Zang DJ, et al. Hereditary benign telangiectasia without family history in China. Chin Med J (Engl) 2011; 124: 795–796. International Journal of Dermatology 2015, 54, e94–e108
Figure 1 Clinical examination shows erythematous annular polycyclic plaques on the trunk in a 29-year-old woman with a history of type 1 diabetes mellitus and chronic renal failure ª 2014 The International Society of Dermatology
This document is a scanned copy of a printed document. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material.
References 1 Ionescu DN, Mohan D, Carter G, et al. Epidermoid metaplasia of the cervix. Arch Pathol Lab Med 2004; 128: 1052–1053. 2 Belousova IE, Kazakov DV, Michal M. Ectopic sebaceous glands in the vagina. Int J Gynecol Pathol 2005; 24: 193– 195. 3 Rose M, Moore G. Epidermalization of cervix and vagina: an unsolved dilemma. J Low Genit Tract Dis 2008; 12: 217–219.
Hereditary benign telangiectasia in monozygotic twins with no family history
We present the case of 3-year-old twin girls (monochorionic diamniotic) with no past family or personal history of interest who presented asymptomatic skin lesions that appeared almost simultaneously a year before the consultation. The number and size of the lesions had increased since initial onset. The parents reported no previous trauma and no family history of similar lesions. Neither of the twins had a history of mucosal bleeding (oral or gastrointestinal bleeding or epistaxis). Physical examination showed erythematous pink macules with superficial telangiectasias on the neck, trunk, and upper extremities, the borders were burred, and the distribution was random, bilateral, and asymmetric (Fig. 1). Some lesions were surrounded by anemic halos (Fig. 1c). The lesions did not disappear when pressure was applied. No mucosal lesions were detected. Histological examination showed a normal epidermis and thinwalled dilated capillaries and postcapillary venules in the superficial dermis (Fig. 2). Eighteen months later, the lesions were stable and remained asymptomatic. Hereditary benign telangiectasia (HBT), a rare autosomal dominant genetic disorder first described by Wells and Dowling1 in 1971, is classified as a primary telangiectasia and considered a benign form of hereditary hemorrhagic telangiectasia.2 The lesions are acquired in childhood by patients with no history of hemorrhage or
(a)
(b)
systemic disease. The cutaneous presentation can be very polymorphic (ranging from erythematous maculae to spider or punctiform telangiectasias), and the mucosas are not affected. The main histologic feature is dilatation of the vessels in the subpapillary venous plexus. The lesions are invariably asymptomatic but may constitute a cosmetic problem. Brancati et al.3 identified a link between HBT and the locus for capillary malformation (CM; named CMC1) on chromosome 5q14. The differential diagnosis should primarily include CMs. There is some debate as to whether CMs and HBT constitute two separate disorders or represent two forms of a single entity: an overlap between these two phenotypes has been reported in many families, a link with the same locus (CMC1) on chromosome 5 has been identified in both diseases, and the histologic features are the same in both conditions. These findings have led some authors to posit that CMs and HBT are in fact different presentations of a single disorder.3 Acquired port wine stain lesions that are not present at birth are relatively rare and have generally been associated with previous trauma. Furthermore, such lesions usually have a unilateral distribution and appear on the face or neck. Families in which
Figure 2 Dilated capillaries in the upper dermis (Hematoxylin-eosin, 9200)
(c)
Figure 1 (a,b) Erythematous macules with telangiectasias on the chin and arm of the first twin. (c) Telangiectatic lesion with anemic halo on the back of the second twin. The arrow shows the site of skin biopsy ª 2014 The International Society of Dermatology
International Journal of Dermatology 2015, 54, e94–e108
e95
e96
Correspondence
such hereditary malformations present in an autosomal dominant pattern have also been reported, and such cases are difficult to differentiate from HBT. The bilateral clinical presentation, presence of telangiectasias, absence of previous trauma, and appearance of the lesions in both twins makes HBT a more likely diagnosis in our two patients. We have found only two reports in the literature of HBT in patients with no family history4,5 and none in monochorionic twins.
Federica Liuti, MD Pablo J. Almeida, MD Leopoldo Borrego, MD Department of Dermatology Complejo Hospitalario Universitario Insular Materno-Infantil Las Palmas de Gran Canaria Spain Tarsila Montenegro, MD Department of Pathology Complejo Hospitalario Universitario Insular Materno-Infantil Las Palmas de Gran Canaria Spain Federica Liuti, MD Department of Dermatology Complejo Hospitalario Universitario Insular Materno-Infantil Las Palmas de Gran Canaria Spain E-mail: [email protected]
Eosinophilic annular erythema: complete clinical response with dapsone
Editor, Eosinophilic annular erythema (EAE) is a rare entity of unknown etiology which presents as annular erythematous plaques with tissue eosinophilia. There is controversy over whether EAE should be classified as a new and distinct entity or as a subtype of Wells syndrome. Responses to treatment are variable, and the best reported outcomes are those that occur in response to hydroxychloroquine. A 29-year-old woman with a history of type 1 diabetes mellitus and chronic renal failure was evaluated for a 12-month history of itching and erythematous, annular, polycyclic plaques on the trunk and proximal extremities (Fig. 1). The patient had been treated with oral cortico-steroids and hydroxychloroquine for two months without response. Biopsy material from skin lesions showed minimal alterations in the epidermis (orthokeratosis and mild spongiosis), and changes in the superficial and deep dermis with superficial perivascular and perifollicular infiltrate composed predominantly of eosinophils and a few lymphocytes. There were no signs of vasculitis, flame figures, dermal mucin, or vacuolar changes (Fig. 2). Based on the clinical and histopathological findings, a diagnosis of EAE was made. In this case, given the patient’s history of a poor response to treatment with hydroxychloroquine and poor metabolic control, we initiated dapsone at a dose of 25 mg/d for three weeks. This achieved the resolution of the lesions, which has been sustained over eight months of follow-up (Fig. 3).
Funding sources: None. Conflicts of interest: None. References 1 Wells RS, Dowling GB. Hereditary benign telangiectasia. Br J Dermatol 1971; 84: 93–94. 2 Requena L, Sangueza OP. Cutaneous vascular anomalies. Part I. Hamartomas, malformations, and dilation of preexisting vessels. J Am Acad Dermatol 1997; 37: 549–552. 3 Brancati F, Valente EM, Tadini G, et al. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. J Med Genet 2003; 40: 849–853. 4 Nakajima I, Okuyama R, Terui T, et al. The first report of non-hereditary benign telangiectasia. J Eur Acad Dermatol Venereol 2006; 20: 1329–1331. 5 Cai L, Sun QM, Zang DJ, et al. Hereditary benign telangiectasia without family history in China. Chin Med J (Engl) 2011; 124: 795–796. International Journal of Dermatology 2015, 54, e94–e108
Figure 1 Clinical examination shows erythematous annular polycyclic plaques on the trunk in a 29-year-old woman with a history of type 1 diabetes mellitus and chronic renal failure ª 2014 The International Society of Dermatology
This document is a scanned copy of a printed document. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material.
