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Anterior cervical hypertrichosis
P3004
P3006
Treatment of refractory juvenile pityriasis rubra pilaris with etanercept Christina Gelbard, MD, University of TexaseHouston Medical School, Houston, TX, United States; Adelaide Hebert, MD, University of TexaseHouston Medical School, Houston, TX, United States; Catherine Baumgartner, University of TexaseHouston Medical School, Houston, TX, United States
Anterior cervical hypertrichosis Rajani Nalluri, MD, MBBS, Northwest Deanery, Manchester, Lancashire, United Kingdom; Elizabeth Gilmour, MD, MBBS, Tameside General Hospital, Manchester, Lancashire, United Kingdom; Rebecca Brooke, MD, MBBS, Hope Hospital, Salford, Lancashire, United Kingdom
Pityriasis rubra pilaris (PRP) is a pruritic, papulosquamous dermatosis of unclear etiology, characterized by follicular hyperkeratosis and palmoplantar keratoderma. Recently, several cases of adult PRP and one case of juvenile PRP treated with biologics have been reported. To date there have been no reports of the use of etanercept in pediatric PRP. We report the case of refractory juvenile PRP successfully treated with etanercept. A 13-year-old white male presented to the clinic with a 4-year history of red, scaly, pruritic skin that had been diagnosed elsewhere as psoriasis. His daily medications included acitretin 20mg, betamethasone/calcipotriene ointment, and triamcinolone cream. The patient denied joint pain and was otherwise healthy. The patient’s quality of life was greatly reduced by his skin disease because of significant pruritus and the psychosocial impact of the widespread disease. On physical examination, the patient had diffuse erythematous papules and plaques, with islands of sparing on the face, neck, trunk, and extremities. His palms had an erythematous, waxy appearance. A biopsy taken from the patient’s thigh revealed psoriasiform hyperplasia of the epidermis with a checkerboard pattern of parakeratosis, and perivascular lymphocytes, consistent with pityriasis rubra pilaris. The patient was switched from acitretin to methotrexate 25mg weekly, but showed only mild improvement after 7 months. The patient was started on etanercept 25mg subcutaneously twice weekly, and methotrexate was weaned. His etanercept dose was increased to 50mg twice weekly, and his clinical appearance, pruritus, and quality of life have improved significantly. This preliminary case demonstrates the viability of etanercept in the treatment of juvenile PRP and suggests that further investigations into the treatement of this rare disorder in the pediatric population are warranted.
Anterior cervical hypertrichosis (ACH) or ‘‘hairy throat’’ refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. It is a very rare form of congenital localised hypertrichosis, with 26 patients reported so far. We report a child with congenital ACH who presented to a dermatologist at 6 years of age. She enjoyed good general health and did not have any associated symptoms. There was no family history of similar condition, any other skin or hair disease. She was being bullied at school because of her hairy neck and her family requested treatment for her localized hypertrichosis. We reviewed the literature of ACH describing its clinical presentation, associated features, and management. ACH is one of the conditions that presents with hair in the midline. It presents both in a familial fashion (80%) and sporadically. The mode of inheritance is variable, with both autosomal recessive pattern (42%) and autosomal or X-linked dominance (11%) reported. ACH can present both as an isolated defect (60%) and with associated abnormalities, the most common ones being peripheral sensory and motor neuropathy (60%), hallux valgus (40%), and optic atrophy (30%). Other reported associations are thalassemia minor, mental retardation, spina bifida, and excess hair on the back. Even though the majority of patients presented with ACH only, they were investigated because of the known associations. The most frequently performed investigations were opthalmoscopic examination, neurologic examination (nerve conduction studies and electromyography if abnormality detected), and imaging of the spine (radiographs, CT, and MRI). Treatment options include temporary and permanent methods. Bleaching, trimming, shaving, plucking, waxing, and chemical depilation are the temporary methods available. More permanent remedies currently used are electrolysis, thermolysis, laser therapy, and intense pulsed light. Our patient has been offered laser epilation and is currently awaiting treatment. Through this presentation we would like to highlight that although ACH is a cosmetic problem having psychosocial implications, it can be associated with significant systemic abnormalities and relevant investigations need to be performed in all patients to rule them out.
Commercial support: None identified.
Commercial support: None identified.
P3007 Bart syndrome: Association with epidermolysis bullosa and aplasia cutis Manuela Boleira Sieiro Guimaraes, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Ana Maria Mosca de Cerqueira, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Joana Orle Coutinho de Azevedo, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Maria Anisia Silva Sepulcri, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil
P3005 Clinical and radiologic clues to the diagnosis of rapidly involuting congenital hemagiomas Shilpa Reddy, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States; Barrett Zlotoff, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States Background: Rapidly involuting congenital hemangioma (RICH) is a rare vascular tumor of infancy that is often confused with infantile hemangiomas and arteriovenous malformations. By definition, RICHs are fully developed at birth, have no postnatal growth, and most commonly occur on the limb, head, or neck. The underlying cause for RICH has yet to be established. Generally, these hemangiomas involute by the age of 1 and do not require treatment unless symptomatic or for cosmetic reasons. It is important to differentiate these lesions from hemagiomas and AVMs because their natural courses and treatments are different. Objective: Here, we sought to identify and show examples of the most important clinical and radiologic clues to help identify RICH given that histopathologic analysis is not always an option. Methods: Using the PubMed database, we performed a literature search for the best clinical and radiological diagnostic tools in the evaluation of a RICH. Results: Our review of the literature showed that the most useful radiologic tests include ultrasound, MRI, and angiography. We found that ultrasonography with Doppler scanning commonly shows fast flow, heterogeneous, hypoechoic lesions within the subcutaneous fat with transversing vascular channels, and occasional calcification. MRI often shows lack of homogeneity and large flow voids, while angiography characteristically shows large, irregular feeding arteries in a disorganized pattern with AV shunts, and intravascular thrombi. The most unique clinical characteristics include a rim of pallor surrounding a hemispheric/tumor-like plaque and overlying radiating telangiectasias. Conclusion: Overall, RICH is an uncommon vascular tumor with a unique clinical course and can be differentiated from other vascular lesions by radiologic imaging and key clinical features. Commercial support: None identified.
AB110
J AM ACAD DERMATOL
Introduction: Epidermolysis bullosa is a hereditary disorder characterized by fragile skin and the formation of blisters. This entity is a group of 17 types of bullosis induced by minimal trauma. Variants called dystrophic show separation at the lamina densa in the dermoepidermal junction with formation of blisters in the most superficial areas of the dermis. Dystrophic epidermolysis bullosa are divided into types as follows: CockayneeTouraine, Pasini, and Bart syndrome. Aplasia cutis is characterized by circumscribed areas with lack of tissue. It occurs, possibly, by an interruption in intrauterine development of skin. Causes may be genetic, teratogenic, impairment of blood supply, and posttrauma. Bart syndrome is a variant of dystrophic epidermolysis bullosa associated with aplasia cutis. Among six types of aplasia cutis, those associated with Bart syndrome are represented by localized blisters and autosomal dominant or recessive form, and diffuse cutaneous fragility, congenital abnormalities, and autosomal recessive inheritance form. Case report: A 1-week-old male with aplasia cutis extending across the pretibial region of the left leg presented to our department. The loss of tissue committed to muscle fascia with exposure of articular ligaments and retraction of left hallux. He evolved, after 2 months, with healing by second intention. After months, it started healing, and posttraumatic formation of blisters. Histologic study showed subepidermal bulla with absence of inflammatory infiltrate consistent with epidermolysis bullosa. Discussion: Bart syndrome, a rare familial disease, was first described in 1966 as congenital absence of skin, usually in the lower limbs, with appearance of bullous lesions in areas of skin aplasia after trauma/friction, compromising mucosa, and nail dystrophy. Bullous lesions are consistent with dystrophic epidermolysis bullosa, an integral part of the syndrome. Another component of this entity is located aplasia cutis. This association of epidermolysis bullosa with aplasia is rare. The management of the patient in such cases should be multidisciplinary and premature, since the disease may affect vital organs. The etiology of the syndrome is explained by a genetic defect. There is a mutation in the COL7A1 gene that encodes collagen VII (component of anchoring fibrils involved in adhesion of the lamina densa to the dermis), characterizing the disease as serious and unusual in pediatric and dermatology practice. Commercial support: None identified.
MARCH 2010
P3006
Treatment of refractory juvenile pityriasis rubra pilaris with etanercept Christina Gelbard, MD, University of TexaseHouston Medical School, Houston, TX, United States; Adelaide Hebert, MD, University of TexaseHouston Medical School, Houston, TX, United States; Catherine Baumgartner, University of TexaseHouston Medical School, Houston, TX, United States
Anterior cervical hypertrichosis Rajani Nalluri, MD, MBBS, Northwest Deanery, Manchester, Lancashire, United Kingdom; Elizabeth Gilmour, MD, MBBS, Tameside General Hospital, Manchester, Lancashire, United Kingdom; Rebecca Brooke, MD, MBBS, Hope Hospital, Salford, Lancashire, United Kingdom
Pityriasis rubra pilaris (PRP) is a pruritic, papulosquamous dermatosis of unclear etiology, characterized by follicular hyperkeratosis and palmoplantar keratoderma. Recently, several cases of adult PRP and one case of juvenile PRP treated with biologics have been reported. To date there have been no reports of the use of etanercept in pediatric PRP. We report the case of refractory juvenile PRP successfully treated with etanercept. A 13-year-old white male presented to the clinic with a 4-year history of red, scaly, pruritic skin that had been diagnosed elsewhere as psoriasis. His daily medications included acitretin 20mg, betamethasone/calcipotriene ointment, and triamcinolone cream. The patient denied joint pain and was otherwise healthy. The patient’s quality of life was greatly reduced by his skin disease because of significant pruritus and the psychosocial impact of the widespread disease. On physical examination, the patient had diffuse erythematous papules and plaques, with islands of sparing on the face, neck, trunk, and extremities. His palms had an erythematous, waxy appearance. A biopsy taken from the patient’s thigh revealed psoriasiform hyperplasia of the epidermis with a checkerboard pattern of parakeratosis, and perivascular lymphocytes, consistent with pityriasis rubra pilaris. The patient was switched from acitretin to methotrexate 25mg weekly, but showed only mild improvement after 7 months. The patient was started on etanercept 25mg subcutaneously twice weekly, and methotrexate was weaned. His etanercept dose was increased to 50mg twice weekly, and his clinical appearance, pruritus, and quality of life have improved significantly. This preliminary case demonstrates the viability of etanercept in the treatment of juvenile PRP and suggests that further investigations into the treatement of this rare disorder in the pediatric population are warranted.
Anterior cervical hypertrichosis (ACH) or ‘‘hairy throat’’ refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. It is a very rare form of congenital localised hypertrichosis, with 26 patients reported so far. We report a child with congenital ACH who presented to a dermatologist at 6 years of age. She enjoyed good general health and did not have any associated symptoms. There was no family history of similar condition, any other skin or hair disease. She was being bullied at school because of her hairy neck and her family requested treatment for her localized hypertrichosis. We reviewed the literature of ACH describing its clinical presentation, associated features, and management. ACH is one of the conditions that presents with hair in the midline. It presents both in a familial fashion (80%) and sporadically. The mode of inheritance is variable, with both autosomal recessive pattern (42%) and autosomal or X-linked dominance (11%) reported. ACH can present both as an isolated defect (60%) and with associated abnormalities, the most common ones being peripheral sensory and motor neuropathy (60%), hallux valgus (40%), and optic atrophy (30%). Other reported associations are thalassemia minor, mental retardation, spina bifida, and excess hair on the back. Even though the majority of patients presented with ACH only, they were investigated because of the known associations. The most frequently performed investigations were opthalmoscopic examination, neurologic examination (nerve conduction studies and electromyography if abnormality detected), and imaging of the spine (radiographs, CT, and MRI). Treatment options include temporary and permanent methods. Bleaching, trimming, shaving, plucking, waxing, and chemical depilation are the temporary methods available. More permanent remedies currently used are electrolysis, thermolysis, laser therapy, and intense pulsed light. Our patient has been offered laser epilation and is currently awaiting treatment. Through this presentation we would like to highlight that although ACH is a cosmetic problem having psychosocial implications, it can be associated with significant systemic abnormalities and relevant investigations need to be performed in all patients to rule them out.
Commercial support: None identified.
Commercial support: None identified.
P3007 Bart syndrome: Association with epidermolysis bullosa and aplasia cutis Manuela Boleira Sieiro Guimaraes, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Ana Maria Mosca de Cerqueira, MD, Hospital Municipal Jesus, Rio de Janeiro, Brazil; Joana Orle Coutinho de Azevedo, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Maria Anisia Silva Sepulcri, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil
P3005 Clinical and radiologic clues to the diagnosis of rapidly involuting congenital hemagiomas Shilpa Reddy, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States; Barrett Zlotoff, MD, University of New Mexico Department of Dermatology, Albuquerque, NM, United States Background: Rapidly involuting congenital hemangioma (RICH) is a rare vascular tumor of infancy that is often confused with infantile hemangiomas and arteriovenous malformations. By definition, RICHs are fully developed at birth, have no postnatal growth, and most commonly occur on the limb, head, or neck. The underlying cause for RICH has yet to be established. Generally, these hemangiomas involute by the age of 1 and do not require treatment unless symptomatic or for cosmetic reasons. It is important to differentiate these lesions from hemagiomas and AVMs because their natural courses and treatments are different. Objective: Here, we sought to identify and show examples of the most important clinical and radiologic clues to help identify RICH given that histopathologic analysis is not always an option. Methods: Using the PubMed database, we performed a literature search for the best clinical and radiological diagnostic tools in the evaluation of a RICH. Results: Our review of the literature showed that the most useful radiologic tests include ultrasound, MRI, and angiography. We found that ultrasonography with Doppler scanning commonly shows fast flow, heterogeneous, hypoechoic lesions within the subcutaneous fat with transversing vascular channels, and occasional calcification. MRI often shows lack of homogeneity and large flow voids, while angiography characteristically shows large, irregular feeding arteries in a disorganized pattern with AV shunts, and intravascular thrombi. The most unique clinical characteristics include a rim of pallor surrounding a hemispheric/tumor-like plaque and overlying radiating telangiectasias. Conclusion: Overall, RICH is an uncommon vascular tumor with a unique clinical course and can be differentiated from other vascular lesions by radiologic imaging and key clinical features. Commercial support: None identified.
AB110
J AM ACAD DERMATOL
Introduction: Epidermolysis bullosa is a hereditary disorder characterized by fragile skin and the formation of blisters. This entity is a group of 17 types of bullosis induced by minimal trauma. Variants called dystrophic show separation at the lamina densa in the dermoepidermal junction with formation of blisters in the most superficial areas of the dermis. Dystrophic epidermolysis bullosa are divided into types as follows: CockayneeTouraine, Pasini, and Bart syndrome. Aplasia cutis is characterized by circumscribed areas with lack of tissue. It occurs, possibly, by an interruption in intrauterine development of skin. Causes may be genetic, teratogenic, impairment of blood supply, and posttrauma. Bart syndrome is a variant of dystrophic epidermolysis bullosa associated with aplasia cutis. Among six types of aplasia cutis, those associated with Bart syndrome are represented by localized blisters and autosomal dominant or recessive form, and diffuse cutaneous fragility, congenital abnormalities, and autosomal recessive inheritance form. Case report: A 1-week-old male with aplasia cutis extending across the pretibial region of the left leg presented to our department. The loss of tissue committed to muscle fascia with exposure of articular ligaments and retraction of left hallux. He evolved, after 2 months, with healing by second intention. After months, it started healing, and posttraumatic formation of blisters. Histologic study showed subepidermal bulla with absence of inflammatory infiltrate consistent with epidermolysis bullosa. Discussion: Bart syndrome, a rare familial disease, was first described in 1966 as congenital absence of skin, usually in the lower limbs, with appearance of bullous lesions in areas of skin aplasia after trauma/friction, compromising mucosa, and nail dystrophy. Bullous lesions are consistent with dystrophic epidermolysis bullosa, an integral part of the syndrome. Another component of this entity is located aplasia cutis. This association of epidermolysis bullosa with aplasia is rare. The management of the patient in such cases should be multidisciplinary and premature, since the disease may affect vital organs. The etiology of the syndrome is explained by a genetic defect. There is a mutation in the COL7A1 gene that encodes collagen VII (component of anchoring fibrils involved in adhesion of the lamina densa to the dermis), characterizing the disease as serious and unusual in pediatric and dermatology practice. Commercial support: None identified.
MARCH 2010