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Noonan syndrome (NS) is one of the common RASopathies. While the clinical phenotype in NS is variable, it is typically characterized by distinctive craniofacial features, cardiac defects, reduced growth, bleeding disorders, learning issues, and an increased risk of cancer. Several different genes cause NS, all of which are involved in the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. Juvenile xanthogranuloma (JXG) is an uncommon, proliferative, self-limited cutaneous disorder that affects young individuals and may be overlooked or misdiagnosed due to its transient nature. A RASopathy that is known to be associated with JXG is neurofibromatosis type 1 (NF1). JXG in NF1 has also been reported in association with a juvenile myelomonocytic leukemia (JMML). As RASopathies, both NS and NF1 have an increased incidence of JMML. We report a 10-month-old female with NS who has a PTPN11 pathogenic variant resulting in a heterozygous SHP2 p.Y62D missense mutation. She was found to have numerous, small, yellow-pink smooth papules that were histopathologically confirmed to be JXG. In understanding the common underlying pathogenetic dysregulation of the Ras/MAPK pathway in both NS and NF1, this report suggests a possible molecular association for why NS individuals may be predisposed to JXG.

Background/Objective In spring 2020, high numbers of children presented with acral pernio‐like skin rashes, concurrent with the coronavirus disease 2019 (COVID‐19) pandemic. Understanding their clinical characteristics/ infection status may provide prognostic information and facilitate decisions about management. Methods A pediatric‐specific dermatology registry was created by the Pediatric Dermatology COVID‐19 Response Task Force of the Society for Pediatric Dermatology (SPD) and Pediatric Dermatology Research Alliance (PeDRA) and was managed by Children's Hospital of Philadelphia using REDCap. Results Data from 378 children 0‐18 years entered into the registry between April 13 and July 17, 2020 were analyzed. Data were drawn from a standardized questionnaire completed by clinicians which asked for demographics, description of acral lesions, symptoms before and after acral changes, COVID‐19 positive contacts, treatment, duration of skin changes, laboratory testing including SARS‐CoV‐2 PCR and antibody testing, as well as histopathology. 229 (60.6%) were male with mean age of 13.0 years (± 3.6 years). Six (1.6%) tested positive for SARS‐CoV‐2. Pedal lesions (often with pruritus and/or pain) were present in 96%. 30% (114/378) had COVID‐19 symptoms during the 30 days prior to presentation. Most (69%) had no other symptoms and an uneventful course with complete recovery. Conclusions and Relevance Children with acral pernio‐like changes were healthy and all recovered with no short‐term sequelae. We believe these acral changes are not just a temporal epiphenomenon of shelter in place during the spring months of the first wave of the COVID‐19 pandemic and may be a late phase reaction that needs further study.

Herein are presented a collection of pediatric dermatology “mimickers.” We have selected three cases in which the suspected clinical diagnosis was overturned by the histopathology findings.

Background Store-and-forward teledermatology is an emerging means of access for patients with skin disease lacking direct access to dermatologists. Objectives We sought to examine the patient demographics, diagnostic concordance, and treatment patterns in teledermatology for patients younger than 13 years. Methods We conducted a descriptive retrospective cohort study involving 429 patients. Results Diagnoses were concordant in 48% of cases, partially concordant in 10%, and discordant in 42%. Management recommendations were concordant in 28% of cases, partially concordant in 36%, and discordant in 36%. Primary care providers tended to underuse topical steroids and overuse topical antifungals and systemic antibiotics. Only 1.4% and 6.0% of patients required repeated teledermatology consultation and in-person dermatology consultation, respectively. Limitations Limitations were the inability to generalize the data from the population studied and the chances of error and bias in teledermatology diagnoses. Conclusions Store-and-forward teledermatology can improve diagnostic and therapeutic care for skin disease in children who lack direct access to dermatologists.

Background: Acquired hyperpigmented lesions in early childhood can be the presenting sign of serious diseases or benign conditions and often cause significant parental anxiety. Objective: We sought to report a series of 25 young children with hyperpigmented macules on the forehead and temples without preceding erythema, edema, or desquamation. Methods: We conducted a retrospective review of 25 children with similar clinical findings, seen from 2009 to 2013, from 5 medical centers in 3 countries. Results: There were 13 boys and 12 girls of many races. Their ages ranged from 2 to 24 months (mean 12.2 months, median 6 months). The hyperpigmentation presented abruptly in the summer (12 cases), spring (5 cases), winter (5), and fall (2), and was not clearly specified in 1 case. Histopathologic analysis in 3 cases was consistent with postinflammatory hyperpigmentation. After a follow-up period ranging from 3 months to 4.5 years, the lesions persist to a variable degree in 19 cases in which follow-up was possible. Limitations: The age of our patients precluded patch testing and/or invasive diagnostic methods. Conclusions: The clinical features and prolonged clinical course over years do not correspond with any known or previously described cause of acquired facial hyperpigmented macules in young children.

Cilia, or eyelashes, are unique hair follicles normally found at the eyelid margin. The spectrum of cilial anomalies includes cilial row duplication, agenesis, and ectopic placement. Ectopic cilia are the most rare of cilial anomalies. We report a case of a 2-and-a-half-year-old girl with ectopic cilia of the anterior tarsal plate, an extremely rare, congenital anomaly that is most often not associated with other findings and likely results from an event during embryogenesis.

Morphea, also called localized scleroderma, is a fibrosing disorder that resembles scleroderma (systemic sclerosis) microscopically, but typically has a quite different clinical presentation, course and possible pathophysiology. The individual with morphea has single or multiple circumscribed indurated cutaneous plaques that can have variable appearances, depending on the subtype (see classification below and Table 12.1). The main variants are circumscribed or plaque-type morphea (Fig. 12.1a), generalized morphea (Fig. 12.1b), linear morphea (Figs. 12.1c–f and 12.2a–d), and deep morphea or morphea profunda. Unlike scleroderma, systemic disease and involvement of internal organs are uncommon in morphea.

Background Localized scleroderma or morphea is a connective tissue disorder characterized by fibrosis of the skin and subcutaneous tissue. Excessive accumulation of collagen underlies the fibrosis, yet the pathogenesis is unknown. A subset of localized scleroderma/morphea, juvenile localized scleroderma (JLS), affects children and adolescents. Objectives The clinical and microscopic features of JLS have not been fully characterized. The goal is to better characterize the microscopic features of JLS. Methods We collected a distinctive data set of 35 children with JLS, 19 (54%) of whom presented with hypopigmented lesions, and performed a retrospective chart and pathology review. We had adequate tissue for immunostaining studies on 8 of these individuals. Results We found that: (1) CD34 and factor XIIIa immunostaining, reported previously in adult morphea and scleroderma, when used with clinical information, is valuable for confirming a diagnosis of JLS; and (2) presence of hypopigmented lesions in JLS correlates with immunostaining studies. Decreased numbers of MelanA+ melanocytes were present at the dermoepidermal junction in lesional skin in two of 3 children with hypopigmented JLS and in two of 4 children with nonhypopigmented JLS. Limitations The number of cases is small, a function of the small number of children who have biopsy specimens with material sufficient for multiple immunostaining procedures. Conclusions These results provide a useful immunostaining method for confirmation of the diagnosis of JLS. They suggest a complex autoimmune phenotype in some children with JLS.

Background Nonbullous neutrophilic dermatoses are seen infrequently in association with lupus erythematosus (LE). A recently described histopathologic variant of Sweet syndrome, to our knowledge, histiocytoid Sweet syndrome (HSS) has not been described in either pediatric or adult patients with LE. Observations We describe 2 pediatric patients with nonbullous histiocytoid neutrophilic dermatitis in the setting of LE. One case represents the initial presentation of subacute cutaneous LE, while the other case represents a manifestation of established systemic LE. Both cases demonstrate histopathologic findings of HSS. Conclusions We believe that the dermatosis observed in these 2 patients represents a nonbullous histiocytoid neutrophilic dermatosis that is best termed HSS. This entity may represent a distinct and important cutaneous manifestation of LE. Additional study is needed to further elucidate the relationship between neutrophilic dermatitis and LE.

Background Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity. Observations We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder and discussion of the differential diagnosis is presented. The age at onset in our cases ranged from infancy to 6 years of age. Stony-hard skin was noted mostly on the thighs, buttocks, and lower back with shoulder and arm involvement in 2 cases. There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall irregularities. Histopathologically, our cases showed areas of fascial sclerosis or showed increased fibroblast cellularity with thickened, sclerotic, horizontally oriented collagen bundles in the deep reticular dermis and/or subcutaneous septa without associated inflammation. Conclusions Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities. Supportive histopathologic findings consisting of either fascial sclerosis or increased fibroblast cellularity with sclerotic collagen bundles in the deep reticular dermis and/or subcutaneous septa may help to confirm this diagnosis.

The triad of fever, rash, and arthritis in a hospitalized child suggests an inflammatory, infectious, or postinfectious process in most cases; however, malignancy must be considered. The most common causes in this age group are inflammatory conditions, including Kawasaki disease, Henoch-Schonlein Purpura, serum sickness-like reaction, and juvenile idiopathic arthritis. Other rarer inflammatory processes can present with this triad of symptoms such as Cryopyrin-related diseases (autoinflammatory disorders), urticarial vasculitis, and systemic lupus erythematosus. We will discuss the differential diagnosis and inpatient management of fever, rash, and arthritis in a young child, focusing on inflammatory conditions. The important features which can help distinguish these conditions include the nature of the rash, associated signs or symptoms, time course of the eruption, and characteristic laboratory and/or histologic findings.

Several systemic disorders of childhood are characterized by cutaneous stigmata, and these skin signs can serve as important diagnostic clues. Many of the systemic illnesses that are seen in both the pediatric and adult populations often manifest in different ways with respect to their cutaneous features. Also, there are conditions that uniquely present in childhood, such as KD, HSP, acute hemmorhagic edema of infancy, and NOMID. Early recognition of these disorders is important for initiation of appropriate therapy and prevention of adverse outcomes.

A 1-year-old girl presented with acute onset of edematous erythematous plaques associated with bullae on her extremities and accompanied by peripheral eosinophilia. She was afebrile, and the skin lesions were pruritic but not tender. The patient was treated with intravenously administered antibiotics for presumed cellulitis, without improvement. However, the lesions responded rapidly to systemic steroid therapy. On the basis of lesional morphologic features, peripheral eosinophilia, and cutaneous histopathologic features, a diagnosis of Wells' syndrome was made. Wells' syndrome is extremely rare in childhood, with 27 pediatric cases reported in the literature. Because it is seen so infrequently, there are no specific guidelines for evaluation and management of Wells' syndrome among children. The diagnosis should be considered for children with presumed cellulitis and eosinophilia who fail to respond to antibiotics. Evaluation should include a directed history, physical examination, complete blood count, and stool testing for ova and parasites, to identify potential triggers. Treatment is with systemic steroid therapy unless disease is limited, in which case medium/high-potency topical steroids may be indicated. If systemic features are prominent or disease is chronic (lasting >6 months), then a referral to hematology/oncology should be considered.

Longitudinal studies of extreme low birthweight (ELBW) sequelae have most often focused on cognitive rather than on social or behavioral outcomes. Our objective was to examine these latter sequelae which also influence school and academic performance. Methods: We matched 24 children, 3-8 years of age, who were born from 1988-1992 weighing ≤ 1000gm (mean 860 gm, gestational age 27 wks) with 13 same-aged children born at term with birthweights ≥ 2500 gm (mean 3564 gm, gestational age 40 wks). Temperamental, behavioral, and social competency outcomes were assessed by parent report [Temperament Assessment Battery for Children (TABC), Child Behavior Checklist (CBCL)] and investigator evaluation [Vineland Adaptive Behavior Scales (VABS)]. Academic skills were assessed using the Test of Early Math Ability-2 (TEMA-2) and the Test of Early Reading Ability-2 (TERA-2). Results: ELBW subjects had more difficulty with attention and social interactions as compared to normal birthweight (NBW) controls. On theCBCL, the ELBW group scored significantly higher than the NBW group on subscales measuring attention problems (59± 8 vs 51± 2, p=0.014) and social problems (57 ± 8 vs 50 ± 1, p=0.02). On theVABS, ELBW children showed poorer development of adaptive behaviors including communication (p=0.003), daily living skills (p=0.002), and motor skills (p=0.002) as compared to NBW controls. In the VABS Socialization Domain, ELBW children had lower standard scores than controls (p=0.001) reflecting poorer social competency. ELBW children were also more likely to score in the “low” range (