Chilblain lupus in a child
1
Pediatric Dermatology P502 OCULOTRICHODYSPLASIA(OTD) Khalid A Al Aboud, MD, Dermatology Department, King Faisal Hospital, Taif, Saudi Arabia, Makkah, Saudi Arabia, Khalid Al Hawsawi, MD, Dermatology Department, King Faisal Hospital, Taif, Saudi Arabia, Makkah, Saudi Arabia, Dermatology Department, King Faisal Hospital, Taif, Saudi Arabia, Makkah, Saudi Arabia The term ectodermal dysplasia by definition is limited to these disorders with primary defect in hair (1), teeth (2), nail (3) and sweat glands (4). It is classified according to Freire-Maia and Pinheiro into 2 groups. Group A in which the defect is in at least 2 of the epidermal appendages plus or minus other malformations. Group B in which the defect is in at least one classical epidermal appendages plus at least another ectodermal (5) defect, e.g mammary gland, subcutaneous glands, central nervous system, peripheral nerves, and sensory epithelium of the eye, ears and pituitary gland. In group A, there are 11 sub groups, as following 1-2, 1-3, 1-4, 2-3, 2-4, ... etc. In group B, there are 4 sub groups, as following, 1-5, 2-5, 3-5 and 4-5. Till now there are more than 170 syndromes of ectodermal dysplasias. Oculotrichdysplasia (OTD) is an extremely rare autosomal recessive ectodermal dysplasia. It is classified in group A (sub type 1-2-3) ectodermal dysplasia. We report an 11-year-old boy who presented with history of total absence of scalp hair since birth. No history of absent sweating. He is known to have retinitis pigmentosa, glucoma and catarct. Exam- ination revealed dysmorphic facial features, absence of scalp hair, eyelashes, and eye- brows, nail dystophy and anodentia Disclosure not available at press time. P503 TOPICAL VITAMIN E SOLUTION VERSUS PLACEBO IN THE TREATMENT OF YEL- LOW NAIL SYNDROME: A RANDOMIZED DOUBLE-BLIND STUDY Emily M Lambert, BS, Yale University School of Medicine, New Haven, CT, United States, Richard Antaya, MD, Yale University School of Medicine, New Haven, CT, United States Yellow nail syndrome (YNS) is a rare disorder characterized by disfigured nails, primary lymphedema and respiratory disease. The nails of patients with YNS are markedly thick, hyperconvex, discolored and slow-growing. The pathology of these abnormal appearing nails is not known although the gene responsible for YNS was cloned in 2001. Approximately 100 cases have been reported in the literature, mostly in adults in a sporadic manner, with children rarely afflicted. Yellow nails have also been reported in thyroid disease, nephrotic syndrome, rheumatoid arthritis, immunoglobin A (IgA) defi- ciency, Milroy’s disease (congenital lymphedema) and mental retardation. There is not an established therapy for yellow nails. Most reported treatments for YNS are either anec- dotal or derived from very small groups of patients. Therapeutic discovery has been further hindered by spontaneous resolution of yellow nails in up to 30 percent of patients. Since 1973 there have been sporadic reports touting the beneficial effect of vitamin E, both systemically (orally) and topically in solution, for the treatment of YNS. The mechanism of vitamin E therapy is speculative. Lipofuscin pigments may be the source of yellowish color in YNS nails. Lipofuscin pigments are derived from colorless lipid precursors, which undergo oxidation in tissue to produce varying degrees of yellow. Because vitamin E has proven antioxidant properties in vitro and is believed to act as an antioxidant in vivo, protecting cell membranes from free-radical-mediated oxidative damage, it may block the production of lipofuscin pigment. In addition, free-radical reactions are also capable of causing DNA and protein damage, which may result in abnormal keratinization and hinder growth of affected nails. The purpose of this study is to determine if tocopherol acetate (vitamin E) topically applied to the nail plates and periungual skin will have any effect on the growth rate or appearance of the nails in patients with congenital YNS. This randomized, placebo-controlled trial is the largest to date for this rare disease. This study involves three children (siblings) with YNS. Treatment is being given in a randomized, double-blinded manner over 6 months. Patients will be followed for an additional 6 months with all nails receiving vitamin E. Clinical evaluations will be performed at baseline, and at 0, 2, 4 and 6 months. The efficacy measures include clinical and photographic evaluation. This study is ongoing. Disclosure not available at press time. P504 CHILBLAIN LUPUS IN A CHILD Jose ´ Suarez, MD, Section of Dermatology. Hospital Nuestra Sen ˜ora de Candelaria, Santa Cruz de Tenerife, Spain, Fe ´rna ´ndez de Misa Ricardo, MD, PhD, Section of Dermatology. Hospital Nuestra Sen ˜ora de Candelaria, Santa Cruz de Tenerife, Spain, Perera Antonio, MD, Department of Pathology. Hospital Nuestra Sen ˜ora de Candelaria, Santa Cruz de Tenerife, Spain, Feliciano Laura, MD, Section of Dermatology. Hospital Nuestra Sen ˜ora de Candelaria, Santa Cruz de Tenerife, Spain Introduction: Chilblain lupus is a rare variant of lupus erythematosus (LE) first described by Hutchinson in 1888, and characterized by cold induced acrolocated skin lesions resembling chilblains. Case report: A 12-year-old female, with growth hormone deficiency under substitutive therapy, was submitted to our Hospital presenting erythematous and hyperkeratotic plaques with fissures and atrophic areas in hands and fingers, erythematous and scaly plaques in her thighs, buttocks and knees; and a violaceous hue affecting her nose, cheek, chin and ears; and Raynaud’s phenomenon. Skin lesions were painful instead of prurig- inous, appearing during the winter after exposure to cold, and resistant to topical steroid therapy. The lesions disappear spontaneously and totally, with no treatment, when the summer comes. She has been suffering from this condition since her first year of life. A biopsy specimen revealed finding consistent with LE. Direct immunoflorescency was negative both in lesional and healthy skin. Strikingly, she presented titles of antinuclear antibodies of 1/40 in summer (with no lesions) and of 1/640 in winter (with skin lesions). No other sign or symptom of LE was present, and a comprehensive study yielded normal or negative results, except by total serum IgE levels of 969 UI/mL (normal 100). We prescribed chloroquine and avoiding exposure to cold but the response was difficult to assess since spontaneous recovery usually appear in similar dates. Next winter we are considering a trial with topical tacrolimus whose result should be available at the meeting dates. Discussion: We report the clinical and histopathological findings of a child with defi- ciency of human growth hormone and extensive chilblain lupus lesions. Our patient is exceptional due to the age of presentation (1 year), intensity and extension of her skin disease. As a matter of fact, we have not found any similar case in the medical literature. Disclosure not available at press time. P505 A SERIES OF CLINICALLY ATYPICAL NAEVI IN CHILDREN Rebecca J Batchelor, MBChB, The Leeds Centre for Dermatology, Leeds, England, Dr Sheila M Clark, MBChB, The Leeds Centre for Dermatology, Leeds, England Atypical naevi are a risk factor for development of melanoma and, though rare in children, it is important to identify them 1 . It is often difficult to determine those which may become malignant, and a history of change in the naevi or family history of dysplastic naevi/melanoma must also be taken into account when considering management 2 . We report a series of 5 children who presented with clinically atypical naevi to our paediatric dermatology clinic and went on to have excision biopsy. We include the original clinical photograph of the lesions and the histology. We demonstrate the clinical heterogeneity of atypical naevi and therefore, the difficulty in identifying those most at risk of malignant change in children. References 1. Marghoob AA. The dangers of atypical mole (dysplastic nevus) syndrome. Teaching at-risk patients to protect themselves from melanoma. Postgrad Med. 1999 Jun;105(7): 147-8, 151-2, 154 2. Haley JC, Hood AF, Chuang TY, Rasmussen. The frequency of histologically dysplastic nevi in 199 pediatric patients. Pediatr Dermatol. 2000 Jul-Aug; 17(4):266-9 Disclosure not available at press time. P130 JAM ACAD DERMATOL MARCH 2004
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Transcript of Chilblain lupus in a child
Pediatric Dermatology
P502OCULOTRICHODYSPLASIA(OTD)Khalid A Al Aboud, MD, Dermatology Department, King Faisal Hospital, Taif, Saudi Arabia,Makkah, Saudi Arabia, Khalid Al Hawsawi, MD, Dermatology Department, King FaisalHospital, Taif, Saudi Arabia, Makkah, Saudi Arabia, Dermatology Department, King FaisalHospital, Taif, Saudi Arabia, Makkah, Saudi Arabia
The term ectodermal dysplasia by definition is limited to these disorders with primarydefect in hair (1), teeth (2), nail (3) and sweat glands (4). It is classified according toFreire-Maia and Pinheiro into 2 groups. Group A in which the defect is in at least 2 of theepidermal appendages plus or minus other malformations. Group B in which the defectis in at least one classical epidermal appendages plus at least another ectodermal (5)defect, e.g mammary gland, subcutaneous glands, central nervous system, peripheralnerves, and sensory epithelium of the eye, ears and pituitary gland. In group A, there are11 sub groups, as following 1-2, 1-3, 1-4, 2-3, 2-4, . . .etc. In group B, there are 4 subgroups, as following, 1-5, 2-5, 3-5 and 4-5. Till now there are more than 170 syndromesof ectodermal dysplasias.
Oculotrichdysplasia (OTD) is an extremely rare autosomal recessive ectodermal dysplasia.It is classified in group A (sub type 1-2-3) ectodermal dysplasia. We report an 11-year-oldboy who presented with history of total absence of scalp hair since birth. No history ofabsent sweating. He is known to have retinitis pigmentosa, glucoma and catarct. Exam-ination revealed dysmorphic facial features, absence of scalp hair, eyelashes, and eye-brows, nail dystophy and anodentia
Disclosure not available at press time.
P503TOPICAL VITAMIN E SOLUTION VERSUS PLACEBO IN THE TREATMENT OF YEL-LOW NAIL SYNDROME: A RANDOMIZED DOUBLE-BLIND STUDYEmily M Lambert, BS, Yale University School of Medicine, New Haven, CT, United States,Richard Antaya, MD, Yale University School of Medicine, New Haven, CT, United States
Yellow nail syndrome (YNS) is a rare disorder characterized by disfigured nails, primarylymphedema and respiratory disease. The nails of patients with YNS are markedly thick,hyperconvex, discolored and slow-growing. The pathology of these abnormal appearingnails is not known although the gene responsible for YNS was cloned in 2001.
Approximately 100 cases have been reported in the literature, mostly in adults in asporadic manner, with children rarely afflicted. Yellow nails have also been reported inthyroid disease, nephrotic syndrome, rheumatoid arthritis, immunoglobin A (IgA) defi-ciency, Milroy’s disease (congenital lymphedema) and mental retardation. There is not anestablished therapy for yellow nails. Most reported treatments for YNS are either anec-dotal or derived from very small groups of patients. Therapeutic discovery has beenfurther hindered by spontaneous resolution of yellow nails in up to 30 percent ofpatients. Since 1973 there have been sporadic reports touting the beneficial effect ofvitamin E, both systemically (orally) and topically in solution, for the treatment of YNS.
The mechanism of vitamin E therapy is speculative. Lipofuscin pigments may be thesource of yellowish color in YNS nails. Lipofuscin pigments are derived from colorlesslipid precursors, which undergo oxidation in tissue to produce varying degrees of yellow.Because vitamin E has proven antioxidant properties in vitro and is believed to act as anantioxidant in vivo, protecting cell membranes from free-radical-mediated oxidativedamage, it may block the production of lipofuscin pigment. In addition, free-radicalreactions are also capable of causing DNA and protein damage, which may result inabnormal keratinization and hinder growth of affected nails. The purpose of this study isto determine if tocopherol acetate (vitamin E) topically applied to the nail plates andperiungual skin will have any effect on the growth rate or appearance of the nails inpatients with congenital YNS. This randomized, placebo-controlled trial is the largest todate for this rare disease.
This study involves three children (siblings) with YNS. Treatment is being given in arandomized, double-blinded manner over 6 months. Patients will be followed for anadditional 6 months with all nails receiving vitamin E. Clinical evaluations will beperformed at baseline, and at 0, 2, 4 and 6 months. The efficacy measures include clinicaland photographic evaluation. This study is ongoing.
Disclosure not available at press time.
P504CHILBLAIN LUPUS IN A CHILDJose Suarez, MD, Section of Dermatology. Hospital Nuestra Senora de Candelaria, SantaCruz de Tenerife, Spain, Fernandez de Misa Ricardo, MD, PhD, Section of Dermatology.Hospital Nuestra Senora de Candelaria, Santa Cruz de Tenerife, Spain, Perera Antonio,MD, Department of Pathology. Hospital Nuestra Senora de Candelaria, Santa Cruz deTenerife, Spain, Feliciano Laura, MD, Section of Dermatology. Hospital Nuestra Senora deCandelaria, Santa Cruz de Tenerife, Spain
Introduction: Chilblain lupus is a rare variant of lupus erythematosus (LE) first describedby Hutchinson in 1888, and characterized by cold induced acrolocated skin lesionsresembling chilblains.
Case report: A 12-year-old female, with growth hormone deficiency under substitutivetherapy, was submitted to our Hospital presenting erythematous and hyperkeratoticplaques with fissures and atrophic areas in hands and fingers, erythematous and scalyplaques in her thighs, buttocks and knees; and a violaceous hue affecting her nose, cheek,chin and ears; and Raynaud’s phenomenon. Skin lesions were painful instead of prurig-inous, appearing during the winter after exposure to cold, and resistant to topical steroidtherapy. The lesions disappear spontaneously and totally, with no treatment, when thesummer comes. She has been suffering from this condition since her first year of life.
A biopsy specimen revealed finding consistent with LE. Direct immunoflorescency wasnegative both in lesional and healthy skin.
Strikingly, she presented titles of antinuclear antibodies of 1/40 in summer (with nolesions) and of 1/640 in winter (with skin lesions). No other sign or symptom of LE waspresent, and a comprehensive study yielded normal or negative results, except by totalserum IgE levels of 969 UI/mL (normal � 100).
We prescribed chloroquine and avoiding exposure to cold but the response was difficultto assess since spontaneous recovery usually appear in similar dates. Next winter we areconsidering a trial with topical tacrolimus whose result should be available at the meetingdates.
Discussion: We report the clinical and histopathological findings of a child with defi-ciency of human growth hormone and extensive chilblain lupus lesions. Our patient isexceptional due to the age of presentation (1 year), intensity and extension of her skindisease. As a matter of fact, we have not found any similar case in the medical literature.
Disclosure not available at press time.
P505A SERIES OF CLINICALLY ATYPICAL NAEVI IN CHILDRENRebecca J Batchelor, MBChB, The Leeds Centre for Dermatology, Leeds, England, DrSheila M Clark, MBChB, The Leeds Centre for Dermatology, Leeds, England
Atypical naevi are a risk factor for development of melanoma and, though rare in children,it is important to identify them1. It is often difficult to determine those which maybecome malignant, and a history of change in the naevi or family history of dysplasticnaevi/melanoma must also be taken into account when considering management2. Wereport a series of 5 children who presented with clinically atypical naevi to our paediatricdermatology clinic and went on to have excision biopsy. We include the original clinicalphotograph of the lesions and the histology. We demonstrate the clinical heterogeneityof atypical naevi and therefore, the difficulty in identifying those most at risk of malignantchange in children.
References
1. Marghoob AA. The dangers of atypical mole (dysplastic nevus) syndrome. Teachingat-risk patients to protect themselves from melanoma. Postgrad Med. 1999 Jun;105(7):147-8, 151-2, 154
2. Haley JC, Hood AF, Chuang TY, Rasmussen. The frequency of histologically dysplasticnevi in 199 pediatric patients. Pediatr Dermatol. 2000 Jul-Aug; 17(4):266-9
Disclosure not available at press time.
P130 J AM ACAD DERMATOL MARCH 2004
