Faculty Bibliography

BACKGROUND: Patients with atopic dermatitis (AD) are prone to skin infections, with microbes such as Staphylococcus aureus suspected of contributing to pathogenesis. Bleach baths might improve AD by reducing skin microbial burden. OBJECTIVE: We sought to characterize the microbiota of lesional and nonlesional skin in young children with AD and control subjects and compare changes after treatment with a topical corticosteroid (TCS) alone or TCS + dilute bleach bath. METHODS: In a randomized, placebo-controlled, single-blinded clinical trial in 21 children with AD and 14 healthy children, lesional and nonlesional AD skin was examined at baseline and after 4-week treatment with TCS alone or TCS plus bleach bath. Microbial DNA was extracted for quantitative polymerase chain reaction of predominant genera and 16S rRNA sequencing. RESULTS: At baseline, densities of total bacteria and Staphylococcus, including Staphylococcus aureus, were significantly higher at the worst AD lesional site than nonlesional (P = .001) or control (P < .001) skin; bacterial communities on lesional and nonlesional AD skin significantly differed from each other (P = .04) and from control (P < .001). After TCS + bleach bath or TCS alone, bacterial compositions on lesional skin normalized (P < .0001), resembling nonlesional skin, with microbial diversity restored to control skin levels. LIMITATIONS: The 4-week time period and/or the twice-weekly baths may not have been sufficient for additional impact on the cutaneous microbiome. More detailed sequencing may allow better characterization of the distinguishing taxa with bleach bath treatment. CONCLUSIONS: Treatment with a TCS cream suffices to normalize the cutaneous microbiota on lesional AD; after treatment, bacterial communities on lesional skin resemble nonlesional skin but remain distinct from control.

BACKGROUND: Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. OBJECTIVE: We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. METHODS: This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. RESULTS: Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. LIMITATIONS: This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. CONCLUSIONS: We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features.

Neurocutaneous syndromes are a heterogeneous group of congenital and hereditary disorders with manifestations in the skin and the nervous system, usually together with ocular features that represent diagnostic clues and potential sources of morbidity. Dermatologists and ophthalmologists often need to work together in identifying and managing patients with these conditions; herein, we focus on classic and under-recognized neurocutaneous syndromes. We begin with autosomal dominant genodermatoses characterized by hamartomas and tumors in the skin, eyes, and central nervous system: neurofibromatosis type 1, tuberous sclerosis complex, and PTEN hamartoma-tumor syndrome. This is followed by a discussion of two mosaic disorders, Sturge-Weber syndrome and neurocutaneous melanocytosis. In addition to providing an update on clinical presentations and evaluation of patients with these conditions, we review recent insights into their pathogenesis, drawing attention to relationships among the diseases on a molecular level and implications regarding treatment. We also highlight the major features of other neurocutaneous syndromes that have ocular findings plus pigmentary, vascular, hyperkeratotic, adnexal, connective tissue, photosensitive, and inflammatory manifestations in the skin.

A new or changing melanocytic nevus in a child or adolescent often leads to concern in parents and physicians. To avoid undue alarm and unnecessary procedures, dermatologists should be aware of the natural history and clinical spectrum of nevi in pediatric patients, as well as findings that are potentially worrisome in this age group. This review provides an update on melanocytic nevi in children, focusing on their dynamic evolution over time, molecular insights into nevogenesis, and phenotypic markers for increased risk of melanoma in adolescence and adulthood. Special considerations for Spitz nevi and nevi located in particular sites (eg, scalp, acral, genital) are highlighted. Current understanding of the risks associated with congenital melanocytic nevi of different sizes and strategies for the management of children with numerous acquired nevi, Spitz nevi, and congenital nevi are also discussed.

Indeterminate cell histiocytosis (ICH) is a rare, heterogeneous disorder that is characterized by immunophenotypic features of both Langerhans cell histiocytosis (LCH) and non-LCH. We describe a 12-month-old boy with a four-month history of asymptomatic, small, pink-tan papules on his face. Histopathologic evaluation showed a superficial, dermal infiltrate of histiocytes that was positive for S100, CD1a, CD68, and Factor XIIIa. To our knowledge, this represents the first report of the clinical presentation of benign cephalic histiocytosis with immunohistochemical findings of ICH. We review the classification of histiocytic disorders and the clinical and immunohistochemical features of both ICH and benign cephalic histiocytosis.

Nevus lipomatosus superficialis is an uncommon cutaneous hamartoma that is characterized by the presence of adipose tissue within the reticular dermis. We describe a 15-year-old boy with a three-year history of the classic type of nevus lipomatosus superficialis, which presented as linear arrays of soft, cerebriform papulonodules and plaques in the right inguinal fold. Investigation for chromosomal aberrations and dysregulation of Wnt signaling may provide insights into the pathogenesis of this hamartoma. Treatment is usually with surgical excision although successful use of other modalities has been described.

Facial involvement represents a characteristic feature of a wide range of genodermatoses. Specific facial findings often help point to the correct diagnosis, which improves counseling and management. In particular, this can facilitate the identification and treatment of associated extracutaneous disease. The highly visible nature of facial lesions in genodermatoses and facial birthmarks can result in stigmatization and frequently leads to particular concern in patients and their family members. It is therefore critical for dermatologists to be aware of the broad spectrum of facial manifestations in genetic skin disease, especially when these findings have important implications with regard to monitoring and treatment. In this contribution, facial involvement in genodermatoses is divided into five morphologic categories based on the most prominent feature: Papules, scaling, photosensitivity/findings associated with aging (eg, telangiectasias, atrophy, lentigines), blisters/erosions, and birthmarks. Hopefully, this will provide a practical and clinically useful approach to a large and diverse assortment of genetic skin conditions.