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Multiple familial tricoepitelioma
P2026 Acrodermatitis enteropathica: Report of two cases Mario Pires, PhD, Hospital do Servidor P ublico Estadual, S~ao Paulo, Brazil; Alexandra Nishida, MD, Hospital do Servidor P ublico Estadual, S~ao Paulo, Brazil; M^ onica Senise, MD, Hospital do Servidor P ublico Estadual, S~ao Paulo, Brazil; Priscila Senise, MD, Hospital do Servidor P ublico Estadual, S~ao Paulo, Brazil; Sheila Castelo Branco, MD, Hospital do Servidor P ublico Estadual, S~ao Paulo, Brazil Background: Zinc functions have been organized into three categories: catalytic, structural, and regulatory. Given the diverse physiologic functions of zinc, there are multiple signs and symptoms of inherited zinc deficiency, which is named acrodermatitis enteropathica (AE). Case reports: Case 1 was a 2-year-old white male who presented to the Hospital do Servidor P ublico Estadual dermatology department with ulcers and crusts on his hands, arms, feet, and groin (Figs 1 and 2). The patient also had geographic tongue (Fig 3). The clinical diagnosis of AE was made, and the low levels of zinc confirmed it. We started the reposition with a very good control of the disease. Case 2 was a 12year-old white male, the brother of case 1, who was called to an examination and he had the same picture during the infancy, with partial remission (Fig 4). One cousin of them probably had the same clinical picture, but we could not examine him. Discussion: AE is a rare autossomal recessive disorder of zinc deficiency. AE occurs worldwide with an estimated incidence of one per 500,000 children. There are multiple signs and symptoms of AE, such as eczematous pink scaly plaques which can become vesicular, bullous, pustular, or squamous. Erosions and ulcers appear later. The lesions develop over the extremities, anogenital, and periorificial areas. Mucous membranes and hairs can be affected. Diarrhea is the most common systemic symptom, but patients with advanced disease will also present with growth delay, mental slowing, poor wound healing, anemia, photophobia, hypogeusia, anorexia, delayed puberty, and hypogonadism in boys and men. We present two brothers with the signs and symptoms of AE. The laboratory examinations confirmed the diagnosis. The younger patient (2 years old) had an earlier diagnosis and we started the treatment before with a very good evolution. He also had geographic tongue, but this association is not described. The old brother (12 years old) had a similar picture during the infancy. The zinc reposition controlled the disease in the younger boy (Figs 5 and 6). AE is very rare, and we emphasize the importance of the early detection with zinc reposition, which can control the disease and improve the prognosis.
HAIR & NAIL DISORDERS P2100 A Japanese piebald patient with auburn hair color caused by a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene Yoshika Narita, MD, Kinki University School of Medicine Department of Dermatology, Osaka, Japan Piebaldism is an inherited disorder characterized by congenital white forelock and patchy leukoderma. The disorder is caused by a mutation of the KIT protooncogene encoding c-kit. Red hair color and fair skin is associated with inactive variants of the MC1R gene. We describe a 1-year-old Japanese infant with (1) poliosis on the frontal region of the scalp; (2) auburn hair color on the other region of the scalp; (3) leukoderma on the forehead, the ventral trunk, knees, and elbows; (4) fair skin on the face except the forehead, dorsal trunk, and upper arms and thighs; and (5) multiple cafe-au-lait spots on both the leukoderma and fair skin regions. We performed polymerase chain reaction (PCR) and direct-sequencing technique using genomic DNA on the coding regions of the KIT and MC1R genes. We found a novel missense mutation in the KIT gene from a proline residue to a leucine at amino acid position 832 in the highly conserved tyrosine kinese domain. In addition, we identified a homozygous variant of the MC1R gene from isoleucine to threonine at amino acid position 120. The function of the variant p.T120 was manifested with a significant decreased responsiveness of intracellular output signals at low concentrations of a MC1R agonist, Nle4-D-Phe7-alpha-MSH. Our observation offers important insight into the possible interaction of c-kit and MC1R proteins in the determination of hair color. Commercial support: None identified.
Commercial support: None identified.
P2101 Association between TLR9 gene polymorphisms and susceptibility to alopecia areata in Korean population Bark Lynn Lew, MD, PhD, College of Medicine, Kyung Hee University, Seoul, South Korea; Chang Min Choi, MD, Kyung Hee University, East West Neo Medical Center, Seoul, South Korea; Hee Ryung Cho, MD, Kyung Hee University, East West Neo Medical Center, Seoul, South Korea; Woo-Young Sim, MD, PhD, College of Medicine, Kyung Hee University, Seoul, South Korea
P2027 Multiple familial tricoepitelioma Maiana Darwich Mendes, University of State of Para, Belem, Brazil; Alena Margareth Darwich Mendes, MMSc, University of State Of Para, Belem, Brazil; Fernanda Cecılia Oliveira de Ataide Brito, University of State of Para, Belem, Brazil; Francisca Regina Oliveira Carneiro, PhD, University of State of Para, Belem, Brazil; Gabriela Borborema do Amaral, University of State of Para, Belem, Brazil Familial trichoepithelioma is a benign skin neoplasm with follicular differentiation that occurs predominantly on face. There are two clinical types: a noninherited and an inherited in an autosomal dominant pattern within families that usually begins in childhood or in puberty. With a benign course, they represent a therapeutic challenge today. The authors report two familial cases (mother and son) of trichoepithelioma. Case was a female, 41 years of age, who sought dermatologic service in March 2008 for the first time, showing multiple papules, scattered over the face, started since 1996, progressively increasing in size and number. They had coalesced to form confluent papular plaques and larger nodules. A skin biopsy specimen and histopathologic examination were made and confirmed the diagnosis of trichoepiteloma. Case 2 was a 25-year-old man featuring multiple papules on the dorsum of the nose since 2006.The clinical diagnosis was made and confirmed by histopathology. The patients were referred for surgical treatment, after having begun the same with a few sessions of electrocoagulation. However, trichoepithelioma with multiple lesions representing major therapeutic challenge. Commercial support: None identified.
AB90
J AM ACAD DERMATOL
Background: Alopecia areata (AA) is an organ-specific autoimmune disease of the hair follicle resulting in hair loss. Several studies have indicated that T cells may play an important role in its development, as well as certain cytokines such as IL-1b, IFNg, and TNF-a. However, the exact pathogenesis is not yet known. Signalling through Toll-like receptor 9 (TLR9), a mediator of innate immune responses, has a role in activation of dendritic cells and autoreactive B cells. TLR9 has been reported to be associated with several autoimmune or immune-mediated diseases, including systemic lupus erythematosus, atopic dermatitis, and arthritis. The aim of this study was to investigate the significance of TLR9 gene polymorphisms in the susceptibility to AA and several phenotypes of AA and understand the pathogenesis of AA. Methods: We conducted a case-control association study of 239 AA patients and 270 matched healthy controls. Genotype frequency of a total of two single nucleotide polymorphims (SNPs) in the TLR9 gene were studied. The statistical analyses were performed according to onset age, the presence of family history, clinical subtypes of AA, and presence of nail involvement or body hair involvement. Results: Two SNPs (rs352140 and rs187084) of TLR9 gene did not show significant differences between AA patients group and controls group. Two SNPs of TLR9 also did not show significant difference according to phenotypes. Conclusion: TLR9 gene polymorphism might not contribute to the increased susceptibility to AA in Korean population, and IL-16 gene polymorphism was not be associated with phenotypes of AA. Commercial support: None identified.
FEBRUARY 2011
HAIR & NAIL DISORDERS P2100 A Japanese piebald patient with auburn hair color caused by a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene Yoshika Narita, MD, Kinki University School of Medicine Department of Dermatology, Osaka, Japan Piebaldism is an inherited disorder characterized by congenital white forelock and patchy leukoderma. The disorder is caused by a mutation of the KIT protooncogene encoding c-kit. Red hair color and fair skin is associated with inactive variants of the MC1R gene. We describe a 1-year-old Japanese infant with (1) poliosis on the frontal region of the scalp; (2) auburn hair color on the other region of the scalp; (3) leukoderma on the forehead, the ventral trunk, knees, and elbows; (4) fair skin on the face except the forehead, dorsal trunk, and upper arms and thighs; and (5) multiple cafe-au-lait spots on both the leukoderma and fair skin regions. We performed polymerase chain reaction (PCR) and direct-sequencing technique using genomic DNA on the coding regions of the KIT and MC1R genes. We found a novel missense mutation in the KIT gene from a proline residue to a leucine at amino acid position 832 in the highly conserved tyrosine kinese domain. In addition, we identified a homozygous variant of the MC1R gene from isoleucine to threonine at amino acid position 120. The function of the variant p.T120 was manifested with a significant decreased responsiveness of intracellular output signals at low concentrations of a MC1R agonist, Nle4-D-Phe7-alpha-MSH. Our observation offers important insight into the possible interaction of c-kit and MC1R proteins in the determination of hair color. Commercial support: None identified.
Commercial support: None identified.
P2101 Association between TLR9 gene polymorphisms and susceptibility to alopecia areata in Korean population Bark Lynn Lew, MD, PhD, College of Medicine, Kyung Hee University, Seoul, South Korea; Chang Min Choi, MD, Kyung Hee University, East West Neo Medical Center, Seoul, South Korea; Hee Ryung Cho, MD, Kyung Hee University, East West Neo Medical Center, Seoul, South Korea; Woo-Young Sim, MD, PhD, College of Medicine, Kyung Hee University, Seoul, South Korea
P2027 Multiple familial tricoepitelioma Maiana Darwich Mendes, University of State of Para, Belem, Brazil; Alena Margareth Darwich Mendes, MMSc, University of State Of Para, Belem, Brazil; Fernanda Cecılia Oliveira de Ataide Brito, University of State of Para, Belem, Brazil; Francisca Regina Oliveira Carneiro, PhD, University of State of Para, Belem, Brazil; Gabriela Borborema do Amaral, University of State of Para, Belem, Brazil Familial trichoepithelioma is a benign skin neoplasm with follicular differentiation that occurs predominantly on face. There are two clinical types: a noninherited and an inherited in an autosomal dominant pattern within families that usually begins in childhood or in puberty. With a benign course, they represent a therapeutic challenge today. The authors report two familial cases (mother and son) of trichoepithelioma. Case was a female, 41 years of age, who sought dermatologic service in March 2008 for the first time, showing multiple papules, scattered over the face, started since 1996, progressively increasing in size and number. They had coalesced to form confluent papular plaques and larger nodules. A skin biopsy specimen and histopathologic examination were made and confirmed the diagnosis of trichoepiteloma. Case 2 was a 25-year-old man featuring multiple papules on the dorsum of the nose since 2006.The clinical diagnosis was made and confirmed by histopathology. The patients were referred for surgical treatment, after having begun the same with a few sessions of electrocoagulation. However, trichoepithelioma with multiple lesions representing major therapeutic challenge. Commercial support: None identified.
AB90
J AM ACAD DERMATOL
Background: Alopecia areata (AA) is an organ-specific autoimmune disease of the hair follicle resulting in hair loss. Several studies have indicated that T cells may play an important role in its development, as well as certain cytokines such as IL-1b, IFNg, and TNF-a. However, the exact pathogenesis is not yet known. Signalling through Toll-like receptor 9 (TLR9), a mediator of innate immune responses, has a role in activation of dendritic cells and autoreactive B cells. TLR9 has been reported to be associated with several autoimmune or immune-mediated diseases, including systemic lupus erythematosus, atopic dermatitis, and arthritis. The aim of this study was to investigate the significance of TLR9 gene polymorphisms in the susceptibility to AA and several phenotypes of AA and understand the pathogenesis of AA. Methods: We conducted a case-control association study of 239 AA patients and 270 matched healthy controls. Genotype frequency of a total of two single nucleotide polymorphims (SNPs) in the TLR9 gene were studied. The statistical analyses were performed according to onset age, the presence of family history, clinical subtypes of AA, and presence of nail involvement or body hair involvement. Results: Two SNPs (rs352140 and rs187084) of TLR9 gene did not show significant differences between AA patients group and controls group. Two SNPs of TLR9 also did not show significant difference according to phenotypes. Conclusion: TLR9 gene polymorphism might not contribute to the increased susceptibility to AA in Korean population, and IL-16 gene polymorphism was not be associated with phenotypes of AA. Commercial support: None identified.
FEBRUARY 2011