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2007: A numerical study
326 When rings are not rings Basarat Baig, MD, Rutgers-Robert Wood Johnson Medical School, Somerset, NJ, United States; Nauman Khalid, MD, University of Connecticut, Department of Internal Medicine, Hartford, CT, United States; Hamza Bhatti, DO, Rutgers-Robert Wood Johnson Medical School, Somerset, NY, United States; Babar Rao, MD, Rutgers-Robert Wood Johnson Medical School, Somerset, NJ, United States Objective: We present 2 cases of subcorneal pustular dermatosis (SPD) also known as Sneddon Wilkinson disease a rare clinical entity which sometimes can be misdiagnosed. Case 1: A 63-year-old male presented with large, scaly, erythematous, annular, hyperpigmented plaques with pustules at the edge of the lesion. Patient was previously treated with topical steroid and antifungal medication which proved to be unsuccessful. A biopsy was taken from left thigh revealed subcorneal aggregates of neutrophils. PAS stain was negative for fungal hyphae. The patient was started on dapsone 100 mg twice daily. His condition improved after 4 weeks of therapy. Case 2: A 60-year-old female who was previously for a fungal skin infection with topical antifungals was seen at our clinic. At the time she had annular scaly patches studded with pustules in her groin, upper thighs, lower legs, chest and axilla. A clinical diagnosis of SPD was suspected. Biopsy was taken from one of the lesions from the right thigh, which confirmed the changes of SPD. Fungal and gram stains were performed to rule out infectious etiology. Patient was then put on oral dapsone at 100 mg/day. Six weeks after onset of her therapy, the lesions had mostly resolved with mild erythema and scaling in some areas. Discussion: SPD must be differentiated from pustular psoriasis, impetigo, pemphigus foliaceus, dermatitis herpetiformis, necrolytic migratory erythema, IgA pemphigus/intraepidermal IgA pustulosis and dermatophytosis. A biopsy revealing subcorneal pustules with negative fungal and bacterial stain is usually diagnostic. Dapsone is the treatment of choice but it is imperative to test for G6PD before starting treatment. Commercial support: None identified.
CONNECTIVE TISSUE DISEASES 300 An association between morphea and Arnold-Chiari malformations Alexa R. Shipman, MBBCh, Dermatology Department, Birmingham Children’s Hospital, Birmingham, United Kingdom; Omar Abdulla, MBBCh, Dermatology Department, University Hospital Coventry and Walsgrave, Coventry, United Kingdom; Joanna Gach, MBBCh, Dermatology Department, Birmingham Children’s Hospital, Birmingham, United Kingdom Sporadic cases of Arnold-Chiari malformations (ACM) found in patients with morphea have been reported informally on different online support groups, although a possible link between both conditions has not been investigated. We report a 16-year-old male with morphea affecting the right side of his forehead, right cheek, chin and upper neck. A magnetic resonance imaging (MRI) scan of his head was requested to assess for any intracranial involvement as well as any soft tissue or boney asymmetry given the distribution of his skin involvement. Herniation of cerebellar tonsils through the foramen magnum was noted, causing crowding of the craniocervical junction in keeping with the diagnosis of ACM-1. A further interval scan with CSF study was arranged by the neurosurgeons and showed stable appearance of brain parenchyma. As the patient was asymptomatic otherwise, no surgical intervention was needed and he is currently under regular neurosurgical follow up. Milhoratt found that 12.7% of patients having surgery for ACM had an inherited connective tissue disorder including: Ehlers-Danlos syndrome, Marfan syndrome, achondroplasia, or osteoporosis which may be significant considering 1/5000-10,000 incidence of these conditions in the general population. The group of patients with connective tissue disorders had a much higher likelihood of having retroodontoid pannus formation, also seen in rheumatoid arthritis, and instability in their occipito-atlanto-axial joint unlike those with no underlying connective tissue disease. The instability of the joint was postulated to play a role in the development of ACM and the lower brain stem symptoms described by the patients with connective tissue diseases. Acquired connective tissue diseases, such as morphea, have a milieu of autoantibodies including those against fibrillin and cytokines such as TGFb, although the pathogenicity of these proteins is still being elucidated. Interestingly, mutations in TGFb receptor 1 or 2 genes have been identified in patients with a syndrome which includes aortic aneurysms and ACMs. Different mutations in the fibrillin-1 gene have been found in familial generalized scleroderma and Marfan syndrome. We would therefore like to hypothesize that the presence of autoantibodies to the same proteins altered in the inherited connective tissue diseases and in morphea lead to similar complications and explain the association of morphea and ACM in our patient. Commercial support: None identified.
360 Cutaneous focal mucinosis presenting as a solitary nodule on the back of a 16 year-old-girl Marıa Teresa L opez-Villaescusa, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Juan Antonio SanchezGavi~ no, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Spain; Jose Manuel Aza~ na-Defez, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Marıa Luisa Martınez-Martınez, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Marıa Rodrıguez-Vazquez, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Spain; Luis I~ niguez de Onzo~ no, Department of Pathology, Complejo Hospitalario Universitario de Albacete, Spain
751
Introduction: Xanthoma disseminatum is a rare, benign, normolipemic noneLangerhans cell histiocytosis. Lipid abnormalities, however, can be seen in rare cases. Case report: A 45-year-old man presented to our outpatient department with an 8year history of multiple, asymptomatic, skin colored to yellowish, flat to slightly raised lesions on the face, neck, trunk and groins. Patient did not give any complaints suggestive of systemic involvement. Dermatologic examination revealed multiple, shiny, yellowish-brown, dome-shaped, soft to firm papules, coalescing at places to form plaques, symmetrically distributed over the periorbital skin, cheeks, neck, upper trunk, axillae and groins. The oral and upper respiratory examination did not reveal any mucosal lesions. The systemic examination was normal. Keeping in mind a possible diagnosis of xanthoma disseminatum, the patient was investigated thoroughly. A complete hemogram, renal, hepatic, and thyroid function tests were normal. Urine and serum osmolality were normal. Serum electrophoresis also did not show any abnormality. Radiologic investigations including MRI brain and skeletal survey were normal. The lipid profile of patient was deranged with raised serum cholesterol, triglycerides, LDL and VLDL fitting into type IIb hyperlipidemia. The histopathology revealed a diffuse dermal infiltrate composed of foamy histiocytes, few foreign body giant cells and scanty lymphocytes. The immunohistochemical markers showed reactivity for CD68 and were negative for S100. Conclusion: Occurrence of lipid abnormalities in patients of xanthoma disseminatum is rare and has so far been reported in very few cases only. To the best of our knowledge this is the first case being reported from India.
The cutaneous mucinoses are a heterogeneous group of connective tissue disorders in which mucin accumulates in the skin or within the hair follicle. The localized form have a number of different morphologic presentations and can often confused with the terminology, subdivided into several subtypes, of which the most common pediatric presentations are cutaneous mucinosis of the infancy and self-healing juvenile cutaneous mucinosis. We describe a 16-year-old girl presented for evaluation of an asymptomatic and solitary nodule on the back, which had first appeared 6 months before. The lesion was gradually growing in size over time and was asymptomatic. No associated fever or any systemic symptoms were noted. There was no preceding trauma or insect bites. The girl was otherwise healthy and on no medications. There was no relevant family history. On physical examination the patient exhibited a well-defined, large nodule 2-2.5 cm in diameter, skin-colored to slightly hyperpigmented, firm, slightly tender and movable. No other abnormalities were found, included palpable lymph nodes and no hepatomegaly or splenomegaly. Deep excisional biopsy of the nodule was made. The histopathologic studies with hematoxylineeosin-stained sections showed abundant and focal faintly staining material in the papillary dermis with rarefaction of the collagen bundles, without alteration of the overlying epidermis. This area stained strongly blue with Alcian blue revealing focal accumulation of mucin deposits in the upper dermis. Routine blood tests were unremarkable, with normal immunoglobulins, thyroidstimulating hormone, triiodothyronine, thyroxine, antinuclear antibodies and Creactive protein. Based on the history, physical examination and histopathology, a diagnosis of cutaneous focal mucinosis was made. Our case is interesting because this infantile presentation is extremely rare. Clinically, many conditions may be considered in the differential diagnosis of cutaneous focal mucinosis. The correct diagnosis, usually made easily when the lesion is biopsied, is important to reassure parents of the seemingly benign nature of this condition which is characterized by the absence of associated systemic disorders (paraproteinemia, bone marrow abnormalities, or thyroid dysfunction). Simple surgical excision is the treatment of choice with satisfactory results and unusual recurrences.
Commercial support: None identified.
Commercial support: None identified.
Xanthoma disseminatum with type IIb hyperlipidemia: A rare case Pooja Agarwal, MBBS, MDAMC Met Medical College, Ahmedabad, India; Vijay Kumar Garg, MBBS, MD, Maulana Azad Medical College, New Delhi, India; Bijayalakshmi Sahoo, MBBS, MD, Maulana Azad Medical College, New Delhi, India
AB68
J AM ACAD DERMATOL
MAY 2015
CONNECTIVE TISSUE DISEASES 300 An association between morphea and Arnold-Chiari malformations Alexa R. Shipman, MBBCh, Dermatology Department, Birmingham Children’s Hospital, Birmingham, United Kingdom; Omar Abdulla, MBBCh, Dermatology Department, University Hospital Coventry and Walsgrave, Coventry, United Kingdom; Joanna Gach, MBBCh, Dermatology Department, Birmingham Children’s Hospital, Birmingham, United Kingdom Sporadic cases of Arnold-Chiari malformations (ACM) found in patients with morphea have been reported informally on different online support groups, although a possible link between both conditions has not been investigated. We report a 16-year-old male with morphea affecting the right side of his forehead, right cheek, chin and upper neck. A magnetic resonance imaging (MRI) scan of his head was requested to assess for any intracranial involvement as well as any soft tissue or boney asymmetry given the distribution of his skin involvement. Herniation of cerebellar tonsils through the foramen magnum was noted, causing crowding of the craniocervical junction in keeping with the diagnosis of ACM-1. A further interval scan with CSF study was arranged by the neurosurgeons and showed stable appearance of brain parenchyma. As the patient was asymptomatic otherwise, no surgical intervention was needed and he is currently under regular neurosurgical follow up. Milhoratt found that 12.7% of patients having surgery for ACM had an inherited connective tissue disorder including: Ehlers-Danlos syndrome, Marfan syndrome, achondroplasia, or osteoporosis which may be significant considering 1/5000-10,000 incidence of these conditions in the general population. The group of patients with connective tissue disorders had a much higher likelihood of having retroodontoid pannus formation, also seen in rheumatoid arthritis, and instability in their occipito-atlanto-axial joint unlike those with no underlying connective tissue disease. The instability of the joint was postulated to play a role in the development of ACM and the lower brain stem symptoms described by the patients with connective tissue diseases. Acquired connective tissue diseases, such as morphea, have a milieu of autoantibodies including those against fibrillin and cytokines such as TGFb, although the pathogenicity of these proteins is still being elucidated. Interestingly, mutations in TGFb receptor 1 or 2 genes have been identified in patients with a syndrome which includes aortic aneurysms and ACMs. Different mutations in the fibrillin-1 gene have been found in familial generalized scleroderma and Marfan syndrome. We would therefore like to hypothesize that the presence of autoantibodies to the same proteins altered in the inherited connective tissue diseases and in morphea lead to similar complications and explain the association of morphea and ACM in our patient. Commercial support: None identified.
360 Cutaneous focal mucinosis presenting as a solitary nodule on the back of a 16 year-old-girl Marıa Teresa L opez-Villaescusa, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Juan Antonio SanchezGavi~ no, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Spain; Jose Manuel Aza~ na-Defez, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Marıa Luisa Martınez-Martınez, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Albacete, Spain; Marıa Rodrıguez-Vazquez, Department of Dermatology, Complejo Hospitalario Universitario de Albacete, Spain; Luis I~ niguez de Onzo~ no, Department of Pathology, Complejo Hospitalario Universitario de Albacete, Spain
751
Introduction: Xanthoma disseminatum is a rare, benign, normolipemic noneLangerhans cell histiocytosis. Lipid abnormalities, however, can be seen in rare cases. Case report: A 45-year-old man presented to our outpatient department with an 8year history of multiple, asymptomatic, skin colored to yellowish, flat to slightly raised lesions on the face, neck, trunk and groins. Patient did not give any complaints suggestive of systemic involvement. Dermatologic examination revealed multiple, shiny, yellowish-brown, dome-shaped, soft to firm papules, coalescing at places to form plaques, symmetrically distributed over the periorbital skin, cheeks, neck, upper trunk, axillae and groins. The oral and upper respiratory examination did not reveal any mucosal lesions. The systemic examination was normal. Keeping in mind a possible diagnosis of xanthoma disseminatum, the patient was investigated thoroughly. A complete hemogram, renal, hepatic, and thyroid function tests were normal. Urine and serum osmolality were normal. Serum electrophoresis also did not show any abnormality. Radiologic investigations including MRI brain and skeletal survey were normal. The lipid profile of patient was deranged with raised serum cholesterol, triglycerides, LDL and VLDL fitting into type IIb hyperlipidemia. The histopathology revealed a diffuse dermal infiltrate composed of foamy histiocytes, few foreign body giant cells and scanty lymphocytes. The immunohistochemical markers showed reactivity for CD68 and were negative for S100. Conclusion: Occurrence of lipid abnormalities in patients of xanthoma disseminatum is rare and has so far been reported in very few cases only. To the best of our knowledge this is the first case being reported from India.
The cutaneous mucinoses are a heterogeneous group of connective tissue disorders in which mucin accumulates in the skin or within the hair follicle. The localized form have a number of different morphologic presentations and can often confused with the terminology, subdivided into several subtypes, of which the most common pediatric presentations are cutaneous mucinosis of the infancy and self-healing juvenile cutaneous mucinosis. We describe a 16-year-old girl presented for evaluation of an asymptomatic and solitary nodule on the back, which had first appeared 6 months before. The lesion was gradually growing in size over time and was asymptomatic. No associated fever or any systemic symptoms were noted. There was no preceding trauma or insect bites. The girl was otherwise healthy and on no medications. There was no relevant family history. On physical examination the patient exhibited a well-defined, large nodule 2-2.5 cm in diameter, skin-colored to slightly hyperpigmented, firm, slightly tender and movable. No other abnormalities were found, included palpable lymph nodes and no hepatomegaly or splenomegaly. Deep excisional biopsy of the nodule was made. The histopathologic studies with hematoxylineeosin-stained sections showed abundant and focal faintly staining material in the papillary dermis with rarefaction of the collagen bundles, without alteration of the overlying epidermis. This area stained strongly blue with Alcian blue revealing focal accumulation of mucin deposits in the upper dermis. Routine blood tests were unremarkable, with normal immunoglobulins, thyroidstimulating hormone, triiodothyronine, thyroxine, antinuclear antibodies and Creactive protein. Based on the history, physical examination and histopathology, a diagnosis of cutaneous focal mucinosis was made. Our case is interesting because this infantile presentation is extremely rare. Clinically, many conditions may be considered in the differential diagnosis of cutaneous focal mucinosis. The correct diagnosis, usually made easily when the lesion is biopsied, is important to reassure parents of the seemingly benign nature of this condition which is characterized by the absence of associated systemic disorders (paraproteinemia, bone marrow abnormalities, or thyroid dysfunction). Simple surgical excision is the treatment of choice with satisfactory results and unusual recurrences.
Commercial support: None identified.
Commercial support: None identified.
Xanthoma disseminatum with type IIb hyperlipidemia: A rare case Pooja Agarwal, MBBS, MDAMC Met Medical College, Ahmedabad, India; Vijay Kumar Garg, MBBS, MD, Maulana Azad Medical College, New Delhi, India; Bijayalakshmi Sahoo, MBBS, MD, Maulana Azad Medical College, New Delhi, India
AB68
J AM ACAD DERMATOL
MAY 2015