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Reticulate pigmented anomaly of the flexures (Dowling–Degos disease) with hidradenitis suppurativa
P1307
P1309
Quality of life evaluation in epidermolysis bullosa John Frew, Sydney, Australia; Linda Martin, MBBS, Department of Dermatology, St. George Hospital, Kogarah, Sydney, Australia; Dedee Murrell, MBBCh, MD, Department of Dermatology, St. George Hospital, Kogarah, Sydney, Australia Introduction: Epidermolysis bullosa (EB) is a group of genetic skin blistering disorders which causes significant pain and physical deformity. While the physical impact of EB is obvious, the psychosocial parameters are often overlooked. The aim of this study is to develop a valid and reliable quality of life (QOL) questionnaire to evaluate the physical and psychosocial impact of EB. Generic quality of life and burden of disease tools have poor sensitivity for detecting disability in EB.
Reticulate pigmented anomaly of the flexures (DowlingeDegos disease) with hidradenitis suppurativa Nektarios Lountzis, MD, Geisinger Medical Center, Danville, PA, United States; William Tyler, MD, Geisinger Medical Center, Danville, PA, United States; Michele Maroon, MD, Geisinger Medical Center, Danville, PA, United States
Methods: Nonstructured interviews were conducted with 44 EB patients and their families in order to generate initial items for a pilot questionnaire. Relevant experts in the field involved in the care of EB patients were also interviewed. A content analysis of the interviews was conducted which revealed 168 items which were compiled into a pilot questionnaire of 53 questions. After wording revisions and data reduction, a 25-question final questionnaire was developed and named the Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire. This EB-specific tool was validated against established generic QOL indices, function and psychosocial parameters. Testeretest reliability of the final questionnaire was also conducted. Conclusion: EB is associated with considerably impaired quality of life which varies according to disease subtype. The questionnaire developed was valid and reliable in evaluating quality of life in this cohort of EB patients (Cronbach’s alpha ¼ 0.933). This questionnaire has the potential to identify areas for intervention and to measure the response of interventions in EB.
Reticulate pigmented anomaly of the flexures is a rare autosomal dominant disorder characterized by discrete dappled brown macules that coalesce into reticulate pigmentation in the axillae, neck, and other intertriginous sites. Comedones and cystic lesions have been linked to the disorder and, rarely, hidradenitis suppurativa. We report a case of a 38- year-old white female with recurrent draining abscesses of the flexures and back since the age of 18. Examination revealed many large patulous comedones of the upper back, as well as suppurative nodules of the axilla and perineum consistent with a clinical diagnosis of hidradenitis suppurativa. Closer inspection revealed reticulate pigmentation of the anal verge and more subtle pigmentary changes in the axillae. Biopsy of a pigmented macule near the anal verge displayed prominent lentigo-like epidermal hyperplasia with basal epidermal hyperpigmentation at the tips of the elongated buds of epithelium, consistent with DowlingeDegos disease. Approximately 18 cases of DowlingeDegos disease associated with hidradenitis suppurativa have been reported in the literature. Both diseases occur in similar cutaneous areas, and are characterized by a defect in pilosebaceous occlusion that may etiologically reflect the same follicular anomaly. Commercial support: None identified.
Commercial support: None identified.
HAIR AND NAIL DISORDERS P1400 Frontal fibrosing alopecia—Occurrence in male and female siblings Muireann Roche, MBBCh, Royal Victoria Hospital, Belfast, United Kingdom; M. Y. Walsh, MBBCh, Royal Victoria Hospital, Belfast, United Kingdom; D. K. B. Armstrong, MBBCh, MD, Royal Victoria Hospital, Belfast, United Kingdom
P1308 Cowden syndrome Kristina Paley, MD, University of Pittsburgh, Pittsburgh, PA, United States; Drazen Jukic, MD, PhD, University of Pittsburgh, Pittsburgh, PA, United States; Joseph English, MD, University of Pittsburgh, Pittsburgh, PA, United States Cowden, or multiple hamartoma syndrome, is an autosomal dominant disorder characterized by mucocutaneous hamartomas (most often trichilemmomas) as well as internal, benign, and malignant tumors. Genetic basis for Cowden syndrome is a mutation in PTEN gene, a tumor suppressor that encodes a phosphatase that regulates cell cycle, cell migration, angiogenesis, and apoptosis through various interconnecting pathways. We present a patient with Cowden syndrome who over the course of her lifetime has required more that 30 surgical procedures to address her cutaneous and internal manifestations of this multiple hamartoma syndrome. Commercial support: None identified.
FEBRUARY 2008
Frontal fibrosing alopecia (FFA) is characterized by a band-like loss of hair on the frontoparietal scalp with associated scarring. The condition is thought to represent a variant of lichen planopilaris and almost invariably presents in postmenopausal females.1 Presentation in males is exceptionally rare, and a familial occurrence has not previously been reported. We present two cases of FFA occurring in a brother and sister. Case 1: A 75-year-old female presented to our dermatology service with a 1-year history of progressive asymptomatic frontal hair loss. On examination, she had marked perifollicular erythema with associated scarring alopecia in the frontal and temporal hairline. Loss of the outer third of both eyebrows was also noted. Punch biopsy of the scalp showed fibrous tracts of the hair follicles with associated chronic inflammation, consistent with FFA. Immunofluoresence was negative, as was auto-antibody screen including ENA. Case 2: A 71-year-old male who was the younger brother of our index case 1 presented with a 9-month history of gradual hair loss affecting the temples and frontal hairline. Eyebrow loss had also been noted, and the patient was aware of some redness and scaling of the scalp with mild itch. The skin elsewhere was normal. He too had discrete peri-follicular erythema and scale evident in the frontal and temporal areas with scarring alopecia. There was marked loss of eyebrow hair. Punch biopsy of the scalp again showed characteristic fibrous tracts present at the site of hair follicles within the dermis. There was associated chronic lymphocytic infiltrate. The features were consistent with FFA. Both patients were treated with a trial of topical steroid, but the response in both was disappointing. To our knowledge, FFA affects females almost exclusively, and only one case report exists of an affected male.2 We believe this to be the first report of a familial case and the second of an affected male. References 1. Naz E, et al. Postmenopausal frontal fibrosing alopecia. Clin Exper Dermatol 2003;28:25-7. 2. Stockmeier M, Kunte C, Sander CA, Wolff H. Kossard frontal fibrosing alopecia in a man. Hautarzt 2002;53:409-11. Commercial support: None identified.
J AM ACAD DERMATOL
AB81
P1309
Quality of life evaluation in epidermolysis bullosa John Frew, Sydney, Australia; Linda Martin, MBBS, Department of Dermatology, St. George Hospital, Kogarah, Sydney, Australia; Dedee Murrell, MBBCh, MD, Department of Dermatology, St. George Hospital, Kogarah, Sydney, Australia Introduction: Epidermolysis bullosa (EB) is a group of genetic skin blistering disorders which causes significant pain and physical deformity. While the physical impact of EB is obvious, the psychosocial parameters are often overlooked. The aim of this study is to develop a valid and reliable quality of life (QOL) questionnaire to evaluate the physical and psychosocial impact of EB. Generic quality of life and burden of disease tools have poor sensitivity for detecting disability in EB.
Reticulate pigmented anomaly of the flexures (DowlingeDegos disease) with hidradenitis suppurativa Nektarios Lountzis, MD, Geisinger Medical Center, Danville, PA, United States; William Tyler, MD, Geisinger Medical Center, Danville, PA, United States; Michele Maroon, MD, Geisinger Medical Center, Danville, PA, United States
Methods: Nonstructured interviews were conducted with 44 EB patients and their families in order to generate initial items for a pilot questionnaire. Relevant experts in the field involved in the care of EB patients were also interviewed. A content analysis of the interviews was conducted which revealed 168 items which were compiled into a pilot questionnaire of 53 questions. After wording revisions and data reduction, a 25-question final questionnaire was developed and named the Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire. This EB-specific tool was validated against established generic QOL indices, function and psychosocial parameters. Testeretest reliability of the final questionnaire was also conducted. Conclusion: EB is associated with considerably impaired quality of life which varies according to disease subtype. The questionnaire developed was valid and reliable in evaluating quality of life in this cohort of EB patients (Cronbach’s alpha ¼ 0.933). This questionnaire has the potential to identify areas for intervention and to measure the response of interventions in EB.
Reticulate pigmented anomaly of the flexures is a rare autosomal dominant disorder characterized by discrete dappled brown macules that coalesce into reticulate pigmentation in the axillae, neck, and other intertriginous sites. Comedones and cystic lesions have been linked to the disorder and, rarely, hidradenitis suppurativa. We report a case of a 38- year-old white female with recurrent draining abscesses of the flexures and back since the age of 18. Examination revealed many large patulous comedones of the upper back, as well as suppurative nodules of the axilla and perineum consistent with a clinical diagnosis of hidradenitis suppurativa. Closer inspection revealed reticulate pigmentation of the anal verge and more subtle pigmentary changes in the axillae. Biopsy of a pigmented macule near the anal verge displayed prominent lentigo-like epidermal hyperplasia with basal epidermal hyperpigmentation at the tips of the elongated buds of epithelium, consistent with DowlingeDegos disease. Approximately 18 cases of DowlingeDegos disease associated with hidradenitis suppurativa have been reported in the literature. Both diseases occur in similar cutaneous areas, and are characterized by a defect in pilosebaceous occlusion that may etiologically reflect the same follicular anomaly. Commercial support: None identified.
Commercial support: None identified.
HAIR AND NAIL DISORDERS P1400 Frontal fibrosing alopecia—Occurrence in male and female siblings Muireann Roche, MBBCh, Royal Victoria Hospital, Belfast, United Kingdom; M. Y. Walsh, MBBCh, Royal Victoria Hospital, Belfast, United Kingdom; D. K. B. Armstrong, MBBCh, MD, Royal Victoria Hospital, Belfast, United Kingdom
P1308 Cowden syndrome Kristina Paley, MD, University of Pittsburgh, Pittsburgh, PA, United States; Drazen Jukic, MD, PhD, University of Pittsburgh, Pittsburgh, PA, United States; Joseph English, MD, University of Pittsburgh, Pittsburgh, PA, United States Cowden, or multiple hamartoma syndrome, is an autosomal dominant disorder characterized by mucocutaneous hamartomas (most often trichilemmomas) as well as internal, benign, and malignant tumors. Genetic basis for Cowden syndrome is a mutation in PTEN gene, a tumor suppressor that encodes a phosphatase that regulates cell cycle, cell migration, angiogenesis, and apoptosis through various interconnecting pathways. We present a patient with Cowden syndrome who over the course of her lifetime has required more that 30 surgical procedures to address her cutaneous and internal manifestations of this multiple hamartoma syndrome. Commercial support: None identified.
FEBRUARY 2008
Frontal fibrosing alopecia (FFA) is characterized by a band-like loss of hair on the frontoparietal scalp with associated scarring. The condition is thought to represent a variant of lichen planopilaris and almost invariably presents in postmenopausal females.1 Presentation in males is exceptionally rare, and a familial occurrence has not previously been reported. We present two cases of FFA occurring in a brother and sister. Case 1: A 75-year-old female presented to our dermatology service with a 1-year history of progressive asymptomatic frontal hair loss. On examination, she had marked perifollicular erythema with associated scarring alopecia in the frontal and temporal hairline. Loss of the outer third of both eyebrows was also noted. Punch biopsy of the scalp showed fibrous tracts of the hair follicles with associated chronic inflammation, consistent with FFA. Immunofluoresence was negative, as was auto-antibody screen including ENA. Case 2: A 71-year-old male who was the younger brother of our index case 1 presented with a 9-month history of gradual hair loss affecting the temples and frontal hairline. Eyebrow loss had also been noted, and the patient was aware of some redness and scaling of the scalp with mild itch. The skin elsewhere was normal. He too had discrete peri-follicular erythema and scale evident in the frontal and temporal areas with scarring alopecia. There was marked loss of eyebrow hair. Punch biopsy of the scalp again showed characteristic fibrous tracts present at the site of hair follicles within the dermis. There was associated chronic lymphocytic infiltrate. The features were consistent with FFA. Both patients were treated with a trial of topical steroid, but the response in both was disappointing. To our knowledge, FFA affects females almost exclusively, and only one case report exists of an affected male.2 We believe this to be the first report of a familial case and the second of an affected male. References 1. Naz E, et al. Postmenopausal frontal fibrosing alopecia. Clin Exper Dermatol 2003;28:25-7. 2. Stockmeier M, Kunte C, Sander CA, Wolff H. Kossard frontal fibrosing alopecia in a man. Hautarzt 2002;53:409-11. Commercial support: None identified.
J AM ACAD DERMATOL
AB81