P2421RESOLUTION OF ACNE FOLLOWING THERAPY WITH AN ORALCONTRACEPTIVE IN A PATIENT WITH APERT SYNDROME

Tauyee Hsieh, MD, Nhung Ho, MD, Hospital for Sick Children, Toronto, ON,Canada

A female patient with Apert syndrome was first seen at 15 years of age with severeacne of 2 years’ duration. Oral isotretinoin was recommended as first-line therapy.However, given her family’s concerns with the side effects of isotretinoin, oralminocycline and adapalene cream were started with mild improvement. At 17 yearsof age, she was put on a regimen of triphasic oral contraceptive (norgestimate/ethinyl estradiol) for a large ovarian cyst. Consequently, she saw dramaticimprovement in her acne. The improvement was maintained as she continued onthe oral contraceptive 1 year later with no adjunctive therapies.

Apert syndrome is inherited in an autosomal dominant fashion; however, the vastmajority of the cases are sporadic. There is a significant association with advancedpaternal age, and previous studies have found that all mutations occur on thepaternal chromosome. Mutations in the fibroblast growth factor receptor 2 gene(FGFR2), which maps to chromosome 10q25-10q26, cause Apert syndrome.

Apert syndrome is characterized by irregular craniosynostosis, midfacial hypoplasia,and syndactyly, with broad distal phalanx of thumb and big toe. The dermatologichallmark of Apert syndrome is severe acne. Patients with Apert syndrome are foundto have an abnormal sensitivity to normal circulating levels of androgen. Acne inpatients with Apert syndrome is often resistant to conventional therapies, usuallyrequiring prolonged, repeated courses, or high doses of isotretinoin. The efficacy oforal contraceptives to improve acne in healthy adolescents has been reported inmany studies, including recent multicenter, randomized, placebo-controlled trials.

To our knowledge, this is the first published case of a patient with Apert syndromewhose severe acne resolved dramatically after therapy with an oral contraceptive.We propose that oral contraceptives be considered for therapy for acne in femalepatients with Apert syndrome.

BibliographyCohen MM, Kreiborg S. Cutaneous manifestations of Apert syndrome. Am J MedGenet 1995;58:94-6.

Gilaberte M, Puig L, Alomar A. Isotretinoin treatment of acne in a patient withApert syndrome. Pediatr Dermatol 2003;20:443-6.

Lucky AW, et al. Effectiveness of norgestimate and ethinyl estradiol in treatingmoderate acne vulgaris. J Am Acad Dermatol 1997;37:746-54.

P2419MARSHALL’S SYNDROME ASSOCIATED WITH PYODERMA GANGRENOSUMIN A CHILD

Lizmare Bronn, MBChB, H. Francois Jordaan, MDerm, Johann W Schneider, PhD,Stellenbosch University, Tygerberg, South Africa

Marshall’s syndrome (MS) is an uncommon pediatric disease, first described byMarshall et al in 1966. MS is characterized by acquired, localized, neutrophilicdermatitis, followed by lesional and nonlesional loss of elastic tissue in the dermiswith resulting cutis laxa.

Pyoderma gangrenosum (PG) is a rare destructive cutaneous dermatosis firstreported by Brunstig et al in 1930. The lesion classically begins as a painful papule,followed by ulceration with an undermined border and surrounding violaceouserythema. The associated systemic diseases include rheumatoid arthritis, inflamma-tory bowel disease, hematologic malignancy, and IgA gammopathy. A patient withMarshall’s syndrome is presented in whom PG subsequently developed.

A 7-year-old boy presented with red papules and plaques on the face, neck, andforearms. The lesions healed with cutis laxa. He also complained of joint stiffness,malaise, and loss of weight. Histology of an active lesion showed a denseneutrophilic infiltrate. Skin biopsy of a healed lesion revealed a loss of elastic fibersconsistent with cutis laxa, thereby confirming the diagnosis of MS. The patient wasintermittently treated with systemic prednisone (1 mg/kg per day) and methotrex-ate (7.5 mg/wk) for a period of 2 years during which he had remissions and relapsesconsequent with tapering of these drugs.

Two years later he developed lesions on both lower legs that started as small redpapules and progressed to form plaques and subsequently painful ulcers withviolaceous borders clinically compatible with PG. Histology showed a nodulardermatitis with neutrophils in the upper and mid reticular dermis. No vasculitis,folliculitis, or granulomatous changes were present. Fungal stains were all negative.These findings are in keeping with PG. The patient was extensively investigated forassociated systemic disease, but none was present. The PG was additionally treatedwith dapsone (50mg/d) aswell aswound care. Currently skin lesions of bothMS andPG are still active.

Sweet’s syndrome associated with PG have been described in adult patientspreviously. To our knowledge, MS associated with PG in childhood has not beenreported in the literature. The exact relationship betweenMS and Sweet’s syndromeremains to be elucidated.

Nothing to disclose.

P2420PEDIATRIC CUTANEOUS HAMARTOMAS: TWO CASE REPORTS ANDA REVIEW

Renee Grau, MD, A. Neil Crowson, MD, David Adelson, MD, Jeri Beth Foshee, BS,University of Oklahoma Health Sciences Center, Oklahoma City, OK, UnitedStates

Pediatric cutaneous hamartomas are rare lesions that present diagnostic challengesto the dermatologist and concern to parents. We present two such cases: a 3-month-old girl with multiple, asymptomatic, nodular lesions localized to the inguinal foldand a 2-year-old boy with a painless rubbery nodule, which fluctuated in size, on hisright buttock. Histologic examination revealed findings consistent with an eccrineangiomatous hamartoma in the first case and nevus mucinosus in the second case.These cases prompted a review of the literature of pediatric cutaneous hamartomasfocusing on those derived from connective tissue and adnexal structures.

Nothing to disclose.

Nothing to disclose.

P2422SECONDARY ANETODERMA OVERLYING PILOMATRICOMA

Maria Gomez, MD, Hospital Posadas, Buenos Aires, Argentina; Pedro Rovere, MD,Hospital Posadas-Clinica Bessone, Buenos Aires, Argentina; Sandra Garcia, MD,Hospital Posadas, Buenos Aires, Argentina; Jose Casas, MD, Hospital Posadas-Clinica Bessone, Buenos Aires, Argentina

Pilomatricoma is a relatively uncommon tumor that may occur at any age frominfancy. The majority of the patients are younger than 20 years; females are affectedmore often than males. We report the characteristics of 3 patients (a 14-year-old boy;a 12-year-old boy, and a 19-year-old woman); each patient had pilomatricomas withanetodermic cutaneous changes. Two of the tumors were medium-sized, and onewas large. The appearance was of soft, atrophic, brown-pink translucent skincovering a firm subcutaneous mass; one of the tumors had heavily folded skin.Histopathologic examination of the skin confirmed the clinical diagnosis andshowed atrophic and edematous changes in the dermis, whichwere associated withdiminished fragmented collagen and absent elastic tissue. We consider these cases tobe important because of the clinical and histopathologic aspects of this uncommontumor.

Nothing to disclose.

P156 J AM ACAD DERMATOL MARCH 2005