P6391Chymotrypsin-like protease activity in the stratum corneum is increasedin atopic dermatitis and upon washing with soap

Simon Danby, PhD, The University of Sheffield, The Academic Unit ofDermatology Research, Sheffield, United Kingdom; John Chittock, TheAcademic Unit of Dermatology Research, Department of Infection andImmunity, Faculty of Medicine, Dentistry and Health, The University ofSheffiel, Sheffield, United Kingdom; Katharine M. Martin, Johnson & JohnsonConsumer Companies, Inc, Skillman, NJ, United States; Michael J. Cork, PhD,Sheffield Children’s Hospital, The Paediatric Dermatology Clinic, Sheffield,United Kingdom; Neena K. Tierney, PhD, Johnson & Johnson ConsumerCompanies, Inc, Skillman, NJ, United States

Background: Breakdown of the skin barrier, located in the stratum corneum (SC), is akey event in the development of atopic dermatitis (AD). SC proteases, regulated bypH, are thought to facilitate skin barrier degradation. Both genetic and environ-mental factors associated with a skin barrier defect lead to altered skin surface pH orprotease activity. SC protease activity is therefore a promising marker for determin-ing the combined effect of these factors.

Purpose: To quantify chymotrypsin-like protease activity in the SC of subjects withAD. Further to assess the impact of washing the skin with soap, a negativeenvironmental risk factor for AD, and alternative mild cleansers, on the level ofchymotrypsin-like activity.

Methods: Firstly SC chymotrypsin-like activity was determined ex vivo in 20volunteers with self-reported AD and 20 with no skin disease using a noninvasiveassay. Specific activity was quantified by monitoring cleavage of a fluorogenicpeptide. Secondly skin surface pH and chymotrypsin-like activity were monitoredbefore and at set times after a single wash with a panel of cleansers (1 soap bar,1 soap-based liquid cleanser, and 2 synthetic liquid cleansers), or water alone, atdefined sites on the forearms of 18 healthy volunteers.

Results: Chymotrypsin-like activity was elevated 2-fold in the SC of AD subjectscompared to healthy controls. The AD subjects also exhibited elevated trans-epidermal water loss and reduced SC hydration indicative of a skin barrier defect.Washing with soap significantly elevated skin surface pH by more than 1 unit for atleast 4 hours compared to a mild synthetic cleanser (P\.0001). The increase in pHwas associatedwith significant (P\.0001) elevation (by 4.0-fold after 30minutes) ofchymotrypsin-like activity. Washing with water alone had no significant effect onskin surface pH or protease activity, which was comparable to both syntheticcleansers. The liquid cleanser containing soap significantly elevated skin surface pH(from pH 5.1 to 6.6) but did not elevate chymotrypsin-like activity.

Conclusion: AD skin is characterized by increased chymotrypsin-like activity, consis-tentwith increased skin barrier breakdown.Washingwith soap, butnotmild syntheticcleansers, elevated skin surface pH and chymotrypsin-like activity in healthy subjectsabove the levels in AD subjects. Subsequent proteolytic degradation of the skin barrieris a likely mechanism by which soap and harsh detergents exacerbate AD.

AB172

y was funded by The University of Sheffield (Sheffield, UK) andn Consumer Companies, Inc (Skillman, NJ, USA).

This stud Johnson& Johnso

P6681Clinical familial capillary malformation: Arteriovenous malformationsyndrome without RASA1 mutation

M. Chattopadhyay, Addenbrooke’s Hospital, Cambridge University Hospitals NHSFoundation Trust, Canbridge, United Kingdom; E. Rytina, Addenbrooke’sHospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge,United Kingdom; J. K. Gass, Addenbrooke’s Hospital, Cambridge UniversityHospitals NHS Foundation Trust, Cambridge, United Kingdom

A 2-year-old boy presented with multiple clinical capillary malformations (CMs) ofthe face, lip, trunk and limbs. He was the second born of a nonconsanguinousmarriage and was developmentally normal. He was known to have autosomalrecessive congenital myasthenic syndrome. His parents and 6-year-old brother hadsimilar cutaneous lesions. His father had in excess of 8 small to medium sizedcutaneous CMs. He had previously undergone excision of a large vascular lesion onhis lower lip and chin, which showed predominantly capillary and venousmalformation on histology. His mother had 4 small CMs of the buttock, and hisbrother had 3 small CMs of the limbs and face. Clinically none had high-flow lesions.A brain MRI of our patient did not reveal any structural or vascular abnormality.Sequence analysis of RASA1 gene in the father did not reveal any causative mutationfor familial capillary malformation-arteriovenous malformation syndrome (CM-AVM). Both our patient and his brother are homozygous and his parents areheterozygous for RAPSN gene mutation on chromosome 11 causing congenitalmyasthenic syndrome. The phenotype in our patient and his family is consistentwith CM-AVM, described in 2003 because of a mutation in RASA1 gene located onchromosome 5q13-22. Clinically RASA1-related disorders are characterized bymultiple multifocal CMs localized predominantly on face and limbs with arteriove-nous malformations or arteriovenous fistulae in approximately 30% of patients.Because multiple genes are involved in endothelial genesis, an as yet unrecognizedmutation in one of these may be responsible for the phenotype in this family. It isalso possible that a large deletion in RASA1, not detectable by sequence analysis,may be causative in this family although these have so far not been reported to causeCM-AVM.

cial support: None identified.

Commer

J AM ACAD DERMATOL

P5938Congenital raised bands of infancy: Case report and review of literature

Ana Schierloh, MD, Sanatorio Guemes, Ciudad Autonoma de Buenos Aires,Argentina; Cecilia Crowe, MD, Sanatorio Guemes, Ciudad Autonoma de BuenosAires, Argentina; Horacio Solarz, MD, Sanatorio Guemes, Ciudad Autonoma deBuenos Aires, Argentina; Mariano Marini, Sanatorio Guemes, Ciudad Autonomade Buenos Aires, Argentina

Raised bands are skin-colored linear plaques recently described on skin surface ofinfants and children.They are a rare condition with few cases reported to date. Eventhough the intrinsic pathophysiologic mechanism is unknown, their developmenthas been related to amniotic bands. We report a 5-month-old boy with congenitaland extensive raised bands on trunk and right arm in association with extracuta-neous findings of amniotic band syndrome and trisomy 21. We propose a congenitalorigin for this entity that may be present at birth or become apparent postnatally,and discuss differences with acquired raised bands.

cial support: None identified.

Commer

P6711Cutaneous dermatophyte infections in a neonate and an infant

Syril Keena Que, MD, New York University Langone Medical Center, New York,NY, United States; Jeannette Jakus, MD, SUNY Downstate Medical Center,Brooklyn, NY, United States; Marcelyn Coley, MD, SUNY Downstate MedicalCenter, Brooklyn, NY, United States; Sharon Glick, MD, SUNY Downstate MedicalCenter, Brooklyn, NY, United States

Background: While fungal infections are common in school-age children, they arerare in neonates and infants. Here we present 2 cases of tinea pedis and tinea capitisin an infant and neonate.

Case 1: A 5-week-old African American female presented with a rash on the leftposterior heel. She was born full term via spontaneous vaginal delivery, and theprenatal course was uneventful. On physical examination, there was a 2 cm solitaryannular plaque on a slightly erythematous base with pustules along the border onthe posterior aspect of her left heel. Palms, soles, and mucosal surfaces were clear ofskin lesions. Fungal, bacterial, and viral cultures of the pustules were performed.The patient was presumptively treated for dermatophyte infection with topicalketoconazole cream, with resolution of the lesion in three weeks. A fungal culturewas later positive for Trichophyton tonsurans.

Case 2: An 18-day-old African American male presented for evaluation of a crustedlesion on the right temporal scalp. The neonate was born full term via spontaneousvaginal delivery. The pregnancy and antenatal course were uncomplicated and thenewborn’s birth weight was 3265g. At the time of presentation, the mother wasincidentally noted to have similar appearing plaques on her right forearm. Onphysical examination, there was a 0.6-cm annular plaque with overlying yellow-colored crust with small pustules along the periphery on the right temporal scalp.No lymph nodes were palpable. Fungal and bacterial cultures were obtained and theneonate was started on a 14-day course of oral fluconazole at 6 mg/kg/day. Themother was prescribed topical econazole cream. At the 1 week follow-up, thepatient andmother were both improved. The fungal culture confirmed the presenceof Trichophyton tonsurans.

Discussion: While dermatophyte infections are relatively rare in infants andneonates, they do exist in this population. Oftentimes they are mistaken for themore common skin conditions in this age group. For example, the erythema andscaling of fungal infections may be mistaken for seborrheic dermatitis or atopicdermatitis. Tinea can also be mistaken for bacterial folliculitis, candidiasis, orneonatal lupus erythematosus. In these cases, misdiagnosis can lead to impropertreatment and the subsequent progression and spread of lesions. In neonates orinfants with annular, erythematous plaques, dermatophyte infection should beconsidered in the differential diagnosis.

cial support: None identified.

Commer

APRIL 2013