Segmental stiff skin syndrome (SSS): A distinct clinical entity.

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.

Cutaneous microbiome effects of fluticasone propionate cream and adjunctive bleach baths in childhood atopic dermatitis.

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.

Genital melanocytic nevi in children: Experience in a pediatric dermatology practice.

BACKGROUND: Little is known about the prevalence and clinical characteristics of genital melanocytic nevi in children. OBJECTIVE: We sought to describe the epidemiology, clinical and dermoscopic features, and natural history of genital nevi in pediatric patients. METHODS: We reviewed charts of 1159 children given the diagnosis of melanocytic nevi over 11 years. Those with genital nevus as a chief symptom were contacted for follow-up. RESULTS: Among children/adolescents evaluated for nevi, the prevalence of genital nevus was 3.5% (40/1159), with a male:female ratio of 1.3:1. There were no statistically significant differences in age, sex, total nevus number, presence of acral and scalp nevi, or family history of dysplastic nevi and melanoma between patients with and without genital nevi. Genital nevus onset was before age 2 years in 63.6% of patients. A globular dermoscopic pattern was observed in 93.3%. Most genital nevi underwent a gradual change in diameter, elevation (becoming soft papules), color, texture, or a combination of these. After median follow-up of 1.5 years, no melanoma or other adverse outcome was observed. LIMITATIONS: This was a retrospective chart analysis and questionnaire-based study of a limited number of patients. CONCLUSIONS: Increased awareness of the clinical characteristics, dermoscopic features, and evolution of genital nevi in children may help to avoid unnecessary surgery.

Indeterminate cell histiocytosis that presented clinically as benign cephalic histiocytosis.

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.

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.

Congenital erosive and vesicular dermatosis with reticulated supple scarring: unifying clinical features.

BACKGROUND: Congenital erosive and vesicular dermatosis (CEVD) healing with reticulated supple scarring, a condition usually observed in premature neonates, presents at birth with vesicles and erosions. Lesions typically heal within a few months, leaving behind scarring with a distinctive supple and reticulated texture. OBJECTIVES: We sought to merge existing literature with new cases to further define CEVD. METHODS: We analyzed 19 previous reports of CEVD and added 9 additional patients; we identified unifying characteristics of this cohort. RESULTS: In 28 total cases, notable features included: preterm birth (79%), nail abnormalities (46%), hyperthermia/hypohidrosis (46%), a history of maternal chorioamnionitis (43%), alopecia (43%), neurodevelopmental and ophthalmologic abnormalities (36% each), tongue atrophy (29%), or a combination of these. Patients with CEVD may be prone to postnatal herpetic superinfections. Previously unreported findings included: erosive lichen planus, digital tip gangrene, and hydronephrosis. LIMITATIONS: The small patient sampling makes it difficult to define diagnostic criteria. As certain findings are associated with prematurity, it is unclear to what extent these features result from CEVD, premature birth, or another intrauterine pathology. CONCLUSIONS: Although rare, CEVD should be considered in the differential diagnosis of neonatal vesicles/erosions in the context of a negative infectious workup. This review strengthens the spectrum of CEVD features, thus facilitating its recognition by clinicians.

Pigmentary mosaicism.

Pigmentary mosaicism refers to patterned hypo- and/or hyperpigmentation that results from genetic heterogeneity of skin cells. The most common clinical patterns are streaks and swirls following Blaschko's lines in narrow or broad bands and a block-like distribution. This contribution provides an update on the diverse genetic etiologies, cutaneous findings, potential associated extracutaneous abnormalities, and management of various forms of pigmentary mosaicism. Current terminology, the recent reappraisal of the classic patterns based on scientific advances, and distinct clinicogenetic entities are highlighted. A practical approach to the diagnosis and evaluation of patients with pigmentary mosaicism is provided, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology.

Radiation therapy for high-risk squamous cell carcinomas in patients with xeroderma pigmentosum: report of two cases and review of the literature.

Radiation therapy (RT) represents an important adjuvant treatment modality for high-risk squamous cell carcinomas (SCCs). Despite the frequency of aggressive cutaneous and extracutaneous malignancies, there have been relatively few reports of RT in individuals with xeroderma pigmentosum (XP). We describe 2 adolescent boys with XP and high-risk SCCs of the skin that were treated with standard RT regimens without acute or chronic complications. After follow-up periods of 2 and 7 years, both of these patients had developed fewer skin cancers on the treated side of the face. A review of reported cases revealed that XP patients generally have normal cellular and clinical responses to ionizing radiation, which reflects the specificity of their nucleotide excision repair defect for ultraviolet radiation-induced DNA damage.

Pediatric Mastocytosis: Recognition and Management.

Mastocytosis is a heterogeneous group of disorders characterized by the accumulation of clonal mast cells in organs such as the skin and bone marrow. In contrast to adults, most affected children have only cutaneous involvement. This article reviews the molecular pathogenesis, skin findings, mast cell mediator-related symptoms, evaluation, and management of childhood-onset mastocytosis, noting differences from adult-onset disease. Current classification of cutaneous mastocytosis and the natural histories of different variants in pediatric patients are highlighted, with a focus on clinical manifestations with prognostic implications. A practical algorithm is provided to guide clinical assessment, laboratory and other investigations, and longitudinal monitoring, including recognition of hepatosplenomegaly as a marker of systemic disease and utilization of allele-specific quantitative PCR (ASqPCR) to detect KIT mutations in the peripheral blood. Updated information and consensus-based recommendations regarding possible triggers of mast-cell degranulation (e.g., physical, medications) are discussed, with an emphasis on patient-specific factors and avoiding excessive parental concern. Lastly, an individualized, stepwise approach to treatment of symptoms, skin-directed therapy, and potential use of kinase inhibitors for severe systemic disease is outlined.

Incontinentia pigmenti.

Incontinentia pigmenti is an X-linked dominant genodermatosis that can affect the teeth, eyes, and central nervous system as well as the skin. We describe an infant girl with characteristic cutaneous findings, which progressed through the vesicular, verrucous, and hyperpigmented stages in the first year of life. During the neonatal period, recognition of the linear distribution of vesicular lesions and associated peripheral eosinophilia as well as leukocytosis (which might suggest an infectious etiology) can help to establish the diagnosis. This enables early initiation of ophthalmologic care, which can help to prevent visual sequelae.

Pachydermodactyly.

A 16-year-old boy presented to the Pediatric Dermatology Clinic at the Charles C. Harris Skin and Cancer Pavilion with a two-year history of asymptomatic swelling of fingers on both hands. His condition had remained undiagnosed after previous evaluation by several dermatologists and hand specialists. He initially had noticed increased fullness of his proximal left fourth digit. Several months later, he noted swelling of his left fifth digit and right second through fourth digits. The patient reported no pain, pruritus, restriction of movement, morning stiffness, or trauma. He also denied repetitive hand-rubbing movements although his mother stated that he had this habit as a child. Past medical history included allergic rhinitis and asthma. Similar hand findings were not present in any other members of his family.

Conradi-Hünermann-Happle syndrome.

A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hünermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata.

Epidermal nevus.

A healthy 25-year-old man presented with a widespread, non-organoid, non-epidermolytic epidermal nevus. In addition to extensive hyperpigented patches and thin plaques following Blaschko lines, there were superimposed psoriasiform plaques on the elbows and warty plaques on the upper trunk. Striate palmar keraoderma also was evident. We review the clinical morphologies, sites of involvement, histopathologic findings (presence or absence of epidermolytic hyperkeratosis), and syndromal associations of non-organoid EN with underlying mutations in different genes.

Keratitis-ichthyosis-deafness (KID) syndrome.

A 21-year-old man presented with a life-long history of diffusely thickened skin with a grainy-to-ridged surface, verrucous perioral plaques with radial fissures, and diffuse palmoplantar keratoderma with a stippled appearance. These skin findings were accompanied by sensorineural hearing loss and keratoconjunctivitis, a clinical triad diagnostic of keratitis-ichthyosis-deafness (KID) syndrome. The patient also had a history of recurrent infections and cysts on the scalp. This report draws attention to inflammatory nodules (representing ruptured folliculitis), cysts, and recurrent infections on the scalp as manifestations of KID syndrome and reviews the increasingly recognized risk of follicular tumors and squamous-cell carcinomas in patients with this conditions.

Symmetric truncal aplasia cutis congenita following multifetal reduction of a sextuplet pregnancy.

Aplasia cutis congenita (ACC) in a symmetric, stellate pattern on the trunk or extremities is classically associated with a fetus papyraceus. We report symmetric truncal ACC in a neonate born of a sextuplet pregnancy that had been reduced to twins. This case highlights truncal ACC as a consequence of modern reproductive medicine.