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Infantile systemic hyalinosis: First Moroccan case
P6277
P6344
Hemangioma family burden: Creation of a specific questionnaire Olivia Boccara, MD, Hopital Necker, Paris, France; Cecile Meni, MD, Hopital Necker, Paris, France; Charles-Remy Taieb, MD, MBA, PFSA, Boulogne Billancourt, France; Christine Bodemer, MD, Hopital Necker, Paris, France; Christine Labreze, MD, Pellegrin Children’s Hospital, Bordeaux, France; Jean Jacques Voisard, MD, PFD, Lavaur, France
Infant formula as a trigger for urticaria multiforme Riley Mclean, University of Massachusetts Medical School, Worcester, MA, United States; Erik Domingues, MD, University of Massachusetts Medical Center, Hahnemann Campus, Worcester, MA, United States; Nikki Levin, MD, PhD, University of Massachusetts Medical Center, Hahnemann Campus, Worcester, MA, United States
Background: The notion of individual burden, associated with the disease, has been introduced recently to determine the ‘‘disability’’ caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). The aim of our study is to develop a specific questionnaire for assessing the burden on families of children with HI. Methods: A ‘‘hemangioma family burden’’ questionnaire (HFB) consisting of 22 items, the score increases with the heaviness of the burden. It was distributed (to families consulting at the Necker Hospital and at the Pellegrin Children’s Hospital) accompanied by 2 validated quality of life questionnaires (SF12 and PGWBI) to obtain internal and external validation. Results: 58 evaluable questionnaires were returned. One parent from each family described how they perceived the effects of the disease, which led to the creation of 6 severity groups, paired together for size reasons: ‘‘not very far-reaching’’ and ‘‘somewhat far-reaching’’; ‘‘quite far-reaching’’ and ‘‘far-reaching’’; ‘‘very far-reaching’’ and ‘‘extremely far-reaching.’’ Internal validity was measured by Cronbach’s alfa, which is equal to 0.95, reflecting a good homogeneity of the 22 questionnaire items. The mean scores of the physical and mental components are 54.93 6 5.12 and 40.49 6 11.28 respectively. The HFB score is correlated with these 2 components, thus confirming external validity. The mean score calculated from the HFB is 23.42 6 19.93. The score increases with the ‘‘severity score’’ of the parents. In fact, a statistically significant difference is observed between the 3 severity groups: 5.28 6 6.8 for those reporting the smallest extent to 41.0 6 18.71 for those reporting the greatest extent, and 27.7 6 16.96 for a moderate extent. This confirms the sensitivity of the HFB. Moreover, the burden of IH increases when parents see their child’s IH as a disability (32.12 6 18.11 vs 16.13 6 18.65; P \.0009).
Urticaria multiforme (UM) is a term first suggested in 2007 by Shah et al to describe benign, self-limited urticaria and edema that results from a hypersensitivity reaction. UM has multiple triggers including infections, medications, and food. The wheals of UM may have central clearing or dusky centers, raising concern for erythema multiforme. Notably lacking in urticaria multiforme are true targetoid patterns and mucosal involvement. In addition, UM is evanescent, responds to antihistamines, and typically has a benign course. We report a case of urticaria multiforme in an 8week-old male infant believed to have been triggered by infant formula. He experienced 5 episodes of this hypersensitivity reaction after feeding with 1 particular formula. The patient had been breastfed and given Enfamil Gentlease, a partially hydrolyzed cow’s milk formula, but was subsequently switched to Enfamil Premium Infant Formula, an intact cow’s milk formula. On 2 occasions after switching formulas he experienced ear swelling, an urticarial rash, and fever, which resolved with diphenhydramine. He was admitted to the hospital after his third episode. On presentation, he had numerous edematous arcuate and annular plaques with dusky centers, raising concern for erythema multiforme. However, the lesions lacked a true targetoid pattern, were evanescent in nature, and he lacked mucosal involvement. A presumed diagnosis of urticaria multiforme was made. Infectious etiologies and medication allergies were ruled out and the patient was treated with diphenhydramine with resolution of the fevers and cutaneous eruption. Following discharge, he experienced 2 similar reactions after being fed with Enfamil Premium Infant Formula. He was subsequently switched to Similac Sensitive, a lactose-reduced intact cow’s milk formula, without any further episodes of UM. The patient is scheduled to see an allergist for an oral food challenge and further allergy testing. To our knowledge, this is the first case of urticaria multiforme associated with infant formula.
Discussion: During the evaluation, internal and external validity were confirmed. The HFB is correlated with the extent felt by parents, a feeling deemed relevant because it is often the cause of consultation and demand for treatment. We now have an easy-to-use, validated IH tool for assessing the disability caused. After cultural and linguistic validation, the HFB is now available in US English, Spanish, German and Italian. Burden must be assessed internationally and on a larger number of subjects in order to perform a cross-cultural assessment.
Commercial support: None identified.
100% is sponsored by Pierre Fabre Dermatology.
P6959 P7138 Idiopathic eruptive macular pigmentation Sharon Kim, Baylor College of Medicine, Houston, TX, United States; Grace Sun, MD, Baylor College of Medicine, Houston, TX, United States; Kirra Brandon, MD, Texas Children’s Hospital, Houston, TX, United States A 10-year-old white female presented with an abrupt onset of asymptomatic, welldemarcated tan to brown macules and patches without scale or erythema on her midchest, upper back, and proximal arms. The patient denied any preceding inflammatory lesions, application of new topical products, or the use of any oral medications. The patient reported that sun exposure seemed to exacerbate the hyperpigmentation. A punch biopsy revealed pigment incontinence in the absence of any other features. No treatment was initiated after the first office visit. As the hyperpigmented macules began to involve her face the patient started using an overthe-counter hydroquinone 2% cream which significantly lightened the affected areas. Over 2 years the patient has experienced some improvement. Idiopathic eruptive macular pigmentation (IEMP) is an uncommon, benign melanosis usually affecting children and adolescents. There have only been about 30 cases reported in the literature. IEMP presents with the sudden appearance of macules which are between 0.5 -2.5 cm in diameter, nonscaly and nonerythematous, affecting the face, trunk and proximal extremities. IEMP has been reported in association with pityriasis rosea, pregnancy and thyroiditis, although most cases are idiopathic. Biopsy is helpful in differentiating IEMP from mastocytosis, drug reaction and lichen planus pigmentosus. On histology, there is pigment incontinence and a sparse perivascular lymphohistiocytic infiltrate. Erythema dyschromicum perstans has similar histologic findings and can only be differentiated clinically. The lesions in erythema dyschromicum perstans generally begin as 1- to 2-mm macules and slowly enlarge with an erythematous, raised advancing border. Because IEMP is self-limited and most cases resolve in a matter of months to years, no treatment is necessary. There has been one case of IEMP lasting 21 years. There is a variant of IEMP with papillomatosis, although some believe this to be a form of eruptive acanthosis nigricans. In our case of IEMP, the patient has received some benefit from bleaching agents in cosmetically sensitive areas. Commercial support: None identified.
AB174
J AM ACAD DERMATOL
Infantile systemic hyalinosis: First Moroccan case Salwa Chaoui El Faiz, University Hospital Ibn Rushd, Casablanca, Morocco; Hakima Benchikhi, University Hospital Ibn Rushd, Casablanca, Morocco; Khadija Khadir, University Hospital Ibn Rushd, Casablanca, Morocco Background: Infantile systematic hyalinosis (ISH) is a rare, progressive, and fatal disease. It appears to be inherited in autosomal recessive fashion and its pathogenesis is unknown. We report a case which would be, in our knowledge, the first case diagnosed in Morocco. Case report: A 2-year-old boy of consanguineous parents was sent to us for anal and cervical cutaneous lesions. At the age of 6 months, the mom had noticed a difficulty in his feeding associated with a chronic diarrhea, an algetical behavior, limitation in the articular mobility and the episodes of recurrent infection. The examination at the admission has found a growth delay, a facial dysmorphie, cervical and retroauricular papules, a gingival and labial hypertrophy, with multiple sessile nodules in the anal area. We noticed an attitude in flexion of the articulations in his elbows and knees. The histologic examination from the perianal papule showed hyalinization of the papillary and reticular dermis with thickened collagen. The diagnosis of infantile systemic hyalinosis was retained. Besides, our patient presented a state of severe denutrition with an anemia associated with important hydroelectrolytic disorders for which he was transferred in department pediatrics. One month later, our patient died in the same context. Discussion: The originality of our observation resides in the extreme rarity of this clinical entity, indeed only 20 cases were described in the literature. The diagnosis of the ISH was retained at our patient in front of the clinical and histologic elements which are all for that objective signs in favor of this pathology. This disease, is characterized by a hyaline deposition in multiple organ systems. It affects both sexes and expresses itself in the first 6 months of the patient life. The genetic study shows that it is about a mutation of the gene encoding for CMG-2 (capillary morphogenesis protein-2). The same anomaly is responsible for the juvenile hyaline fibromatosis. The ISH has a fatal evolution during the first 2 years of the life. The death is most frequently owed to repetitive respiratory infections and in a severe diarrhea, causes of mortality to our patient. Commercial support: None identified.
APRIL 2013
P6344
Hemangioma family burden: Creation of a specific questionnaire Olivia Boccara, MD, Hopital Necker, Paris, France; Cecile Meni, MD, Hopital Necker, Paris, France; Charles-Remy Taieb, MD, MBA, PFSA, Boulogne Billancourt, France; Christine Bodemer, MD, Hopital Necker, Paris, France; Christine Labreze, MD, Pellegrin Children’s Hospital, Bordeaux, France; Jean Jacques Voisard, MD, PFD, Lavaur, France
Infant formula as a trigger for urticaria multiforme Riley Mclean, University of Massachusetts Medical School, Worcester, MA, United States; Erik Domingues, MD, University of Massachusetts Medical Center, Hahnemann Campus, Worcester, MA, United States; Nikki Levin, MD, PhD, University of Massachusetts Medical Center, Hahnemann Campus, Worcester, MA, United States
Background: The notion of individual burden, associated with the disease, has been introduced recently to determine the ‘‘disability’’ caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). The aim of our study is to develop a specific questionnaire for assessing the burden on families of children with HI. Methods: A ‘‘hemangioma family burden’’ questionnaire (HFB) consisting of 22 items, the score increases with the heaviness of the burden. It was distributed (to families consulting at the Necker Hospital and at the Pellegrin Children’s Hospital) accompanied by 2 validated quality of life questionnaires (SF12 and PGWBI) to obtain internal and external validation. Results: 58 evaluable questionnaires were returned. One parent from each family described how they perceived the effects of the disease, which led to the creation of 6 severity groups, paired together for size reasons: ‘‘not very far-reaching’’ and ‘‘somewhat far-reaching’’; ‘‘quite far-reaching’’ and ‘‘far-reaching’’; ‘‘very far-reaching’’ and ‘‘extremely far-reaching.’’ Internal validity was measured by Cronbach’s alfa, which is equal to 0.95, reflecting a good homogeneity of the 22 questionnaire items. The mean scores of the physical and mental components are 54.93 6 5.12 and 40.49 6 11.28 respectively. The HFB score is correlated with these 2 components, thus confirming external validity. The mean score calculated from the HFB is 23.42 6 19.93. The score increases with the ‘‘severity score’’ of the parents. In fact, a statistically significant difference is observed between the 3 severity groups: 5.28 6 6.8 for those reporting the smallest extent to 41.0 6 18.71 for those reporting the greatest extent, and 27.7 6 16.96 for a moderate extent. This confirms the sensitivity of the HFB. Moreover, the burden of IH increases when parents see their child’s IH as a disability (32.12 6 18.11 vs 16.13 6 18.65; P \.0009).
Urticaria multiforme (UM) is a term first suggested in 2007 by Shah et al to describe benign, self-limited urticaria and edema that results from a hypersensitivity reaction. UM has multiple triggers including infections, medications, and food. The wheals of UM may have central clearing or dusky centers, raising concern for erythema multiforme. Notably lacking in urticaria multiforme are true targetoid patterns and mucosal involvement. In addition, UM is evanescent, responds to antihistamines, and typically has a benign course. We report a case of urticaria multiforme in an 8week-old male infant believed to have been triggered by infant formula. He experienced 5 episodes of this hypersensitivity reaction after feeding with 1 particular formula. The patient had been breastfed and given Enfamil Gentlease, a partially hydrolyzed cow’s milk formula, but was subsequently switched to Enfamil Premium Infant Formula, an intact cow’s milk formula. On 2 occasions after switching formulas he experienced ear swelling, an urticarial rash, and fever, which resolved with diphenhydramine. He was admitted to the hospital after his third episode. On presentation, he had numerous edematous arcuate and annular plaques with dusky centers, raising concern for erythema multiforme. However, the lesions lacked a true targetoid pattern, were evanescent in nature, and he lacked mucosal involvement. A presumed diagnosis of urticaria multiforme was made. Infectious etiologies and medication allergies were ruled out and the patient was treated with diphenhydramine with resolution of the fevers and cutaneous eruption. Following discharge, he experienced 2 similar reactions after being fed with Enfamil Premium Infant Formula. He was subsequently switched to Similac Sensitive, a lactose-reduced intact cow’s milk formula, without any further episodes of UM. The patient is scheduled to see an allergist for an oral food challenge and further allergy testing. To our knowledge, this is the first case of urticaria multiforme associated with infant formula.
Discussion: During the evaluation, internal and external validity were confirmed. The HFB is correlated with the extent felt by parents, a feeling deemed relevant because it is often the cause of consultation and demand for treatment. We now have an easy-to-use, validated IH tool for assessing the disability caused. After cultural and linguistic validation, the HFB is now available in US English, Spanish, German and Italian. Burden must be assessed internationally and on a larger number of subjects in order to perform a cross-cultural assessment.
Commercial support: None identified.
100% is sponsored by Pierre Fabre Dermatology.
P6959 P7138 Idiopathic eruptive macular pigmentation Sharon Kim, Baylor College of Medicine, Houston, TX, United States; Grace Sun, MD, Baylor College of Medicine, Houston, TX, United States; Kirra Brandon, MD, Texas Children’s Hospital, Houston, TX, United States A 10-year-old white female presented with an abrupt onset of asymptomatic, welldemarcated tan to brown macules and patches without scale or erythema on her midchest, upper back, and proximal arms. The patient denied any preceding inflammatory lesions, application of new topical products, or the use of any oral medications. The patient reported that sun exposure seemed to exacerbate the hyperpigmentation. A punch biopsy revealed pigment incontinence in the absence of any other features. No treatment was initiated after the first office visit. As the hyperpigmented macules began to involve her face the patient started using an overthe-counter hydroquinone 2% cream which significantly lightened the affected areas. Over 2 years the patient has experienced some improvement. Idiopathic eruptive macular pigmentation (IEMP) is an uncommon, benign melanosis usually affecting children and adolescents. There have only been about 30 cases reported in the literature. IEMP presents with the sudden appearance of macules which are between 0.5 -2.5 cm in diameter, nonscaly and nonerythematous, affecting the face, trunk and proximal extremities. IEMP has been reported in association with pityriasis rosea, pregnancy and thyroiditis, although most cases are idiopathic. Biopsy is helpful in differentiating IEMP from mastocytosis, drug reaction and lichen planus pigmentosus. On histology, there is pigment incontinence and a sparse perivascular lymphohistiocytic infiltrate. Erythema dyschromicum perstans has similar histologic findings and can only be differentiated clinically. The lesions in erythema dyschromicum perstans generally begin as 1- to 2-mm macules and slowly enlarge with an erythematous, raised advancing border. Because IEMP is self-limited and most cases resolve in a matter of months to years, no treatment is necessary. There has been one case of IEMP lasting 21 years. There is a variant of IEMP with papillomatosis, although some believe this to be a form of eruptive acanthosis nigricans. In our case of IEMP, the patient has received some benefit from bleaching agents in cosmetically sensitive areas. Commercial support: None identified.
AB174
J AM ACAD DERMATOL
Infantile systemic hyalinosis: First Moroccan case Salwa Chaoui El Faiz, University Hospital Ibn Rushd, Casablanca, Morocco; Hakima Benchikhi, University Hospital Ibn Rushd, Casablanca, Morocco; Khadija Khadir, University Hospital Ibn Rushd, Casablanca, Morocco Background: Infantile systematic hyalinosis (ISH) is a rare, progressive, and fatal disease. It appears to be inherited in autosomal recessive fashion and its pathogenesis is unknown. We report a case which would be, in our knowledge, the first case diagnosed in Morocco. Case report: A 2-year-old boy of consanguineous parents was sent to us for anal and cervical cutaneous lesions. At the age of 6 months, the mom had noticed a difficulty in his feeding associated with a chronic diarrhea, an algetical behavior, limitation in the articular mobility and the episodes of recurrent infection. The examination at the admission has found a growth delay, a facial dysmorphie, cervical and retroauricular papules, a gingival and labial hypertrophy, with multiple sessile nodules in the anal area. We noticed an attitude in flexion of the articulations in his elbows and knees. The histologic examination from the perianal papule showed hyalinization of the papillary and reticular dermis with thickened collagen. The diagnosis of infantile systemic hyalinosis was retained. Besides, our patient presented a state of severe denutrition with an anemia associated with important hydroelectrolytic disorders for which he was transferred in department pediatrics. One month later, our patient died in the same context. Discussion: The originality of our observation resides in the extreme rarity of this clinical entity, indeed only 20 cases were described in the literature. The diagnosis of the ISH was retained at our patient in front of the clinical and histologic elements which are all for that objective signs in favor of this pathology. This disease, is characterized by a hyaline deposition in multiple organ systems. It affects both sexes and expresses itself in the first 6 months of the patient life. The genetic study shows that it is about a mutation of the gene encoding for CMG-2 (capillary morphogenesis protein-2). The same anomaly is responsible for the juvenile hyaline fibromatosis. The ISH has a fatal evolution during the first 2 years of the life. The death is most frequently owed to repetitive respiratory infections and in a severe diarrhea, causes of mortality to our patient. Commercial support: None identified.
APRIL 2013