Morphea after initiation of dupilumab in two pediatric atopic dermatitis patients.

Morphea is a rare multifactorial autoimmune disorder characterized by a complex and dynamic interplay between Th1 and Th2 signaling. Active clinical trials are currently investigating the safety and efficacy of dupilumab for the treatment of primary morphea. Here, we present two cases of morphea that developed in pediatric atopic dermatitis patients treated with dupilumab. These findings may support a causal relationship between IL-4 receptor blockade and the development of the early inflammatory phase of morphea.

Toxic erythema of chemotherapy affecting the ears of an infant: A case report.

A 15-month-old boy presented with new onset symmetric erythema of the conchal bowls bilaterally in the setting of treatment with cytarabine. Findings were consistent with a diagnosis of toxic erythema of chemotherapy, an adverse effect of chemotherapy. In this report, we detail this uncommon manifestation in a young child along with a brief literature review of the background, pathophysiology, and treatment strategies of toxic erythema of chemotherapy to increase awareness of this presentation in pediatric populations.

A retrospective multicenter study of fatal pediatric melanoma.

BACKGROUND: Pediatric melanoma is rare and diagnostically challenging. OBJECTIVE: To characterize clinical and histopathologic features of fatal pediatric melanomas. METHODS: Multicenter retrospective study of fatal melanoma cases in patients younger than 20 years diagnosed between 1994 and 2017. RESULTS: Of 38 cases of fatal pediatric melanoma identified, 57% presented in white patients and 19% in Hispanic patients. The average age at diagnosis was 12.7 years (range, 0.0-19.9 y), and the average age at death was 15.6 years (range, 1.2-26.2 y). Among cases with known identifiable subtypes, 50% were nodular (8/16), 31% were superficial spreading (5/16), and 19% were spitzoid melanoma (3/16). One fourth (10/38) of melanomas arose in association with congenital melanocytic nevi. LIMITATIONS: Retrospective nature, cohort size, and potential referral bias. CONCLUSIONS: Pediatric melanoma can be fatal in diverse clinical presentations, including a striking prevalence of Hispanic patients compared to adult disease, and with a range of clinical subtypes, although no fatal cases of spitzoid melanoma were diagnosed during childhood.

A PIK3CA mutation in an acquired capillary malformation.

Acquired capillary malformations are rare vascular anomalies composed of dilated capillaries in the skin. We present a pediatric case of an acquired capillary malformation as a novel presentation of the PIK3CA-related overgrowth syndromes. Using next-generation sequencing, we identified a PIK3CA p.Val344Met mutation within the acquired capillary malformation with possible prognostic and therapeutic significance.

A slime of the times: Two cases of acute irritant contact dermatitis from homemade slime.

We describe two cases of acute-onset erythema, peeling, and pruritus or tenderness isolated to the palmar surface of the hands. A detailed exposure history revealed significant periods of contact with homemade slime; given the clinical findings and timing of exposure, acute contact dermatitis of the hands was suspected. Symptoms and clinical findings resolved after avoidance of the suspected causative contactants. There are few if any reported cases of contact dermatitis to homemade slime in the literature; this serves to highlight the importance of a thorough exposure history in the evaluation of hand dermatitis.

Combination hyperbaric oxygen therapy and ustekinumab for severe hidradenitis suppurativa.

Hidradenitis suppurativa is a painful chronic inflammatory skin condition characterized by inflammatory nodules that can lead to sinus tracts and scarring. Numerous treatments have been reported, though none have reliable efficacy. Antiinflammatory agents, such as tumor necrosis factor-alpha inhibitors and interleukin inhibitors, have been used as medical therapy for refractory cases. We describe here a case of severe hidradenitis suppurativa in a pediatric patient successfully treated with a combination of high-dose ustekinumab and hyperbaric oxygen therapy.

Plexiform fibrohistiocytic tumor on the chest of a 5-year-old child and review of the literature.

Plexiform fibrohistiocytic tumor (PFT) is a rare neoplasm of mesenchymal origin that can be identified by its propensity for children and adolescents combined with a characteristic histologic arrangement of histiocytes and osteoclast-like giant cells whorled within tumor islands. A 5-year-old female presented with a raised, intermittently tender, and slowly enlarging tumor on her chest, which was histologically confirmed to be a PFT. We present this case along with a comprehensive review of PFT cases reported in the literature to describe the demographic, histologic, and rarely metastatic behavior of this entity. It is important to include PFT on the differential diagnosis of an enlarging tumor in the pediatric population.

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

In 1964, Baird described a family with adermatoglyphia, facial milia, and skin fragility. Using whole exome sequencing, genotyping, and Sanger sequencing, we identified a 116-kb heterozygous deletion involving exons 1-9 of SMARCAD1 in descendants of this kindred. This contrasts with point mutations within exon 9 in all other reported families.

Angiomatoid and desmoplastic Spitz nevus presenting as a keloidal nodule.

Angiomatoid and desmoplastic Spitz nevi are rare histologic variants of Spitz nevi that present most frequently on the extremities of children and young adults. Although Spitz nevi are clinically heterogeneous, one presenting as a keloidal nodule has not been previously published. We present a case of an angiomatoid and desmoplastic Spitz nevus clinically akin to a keloid on an African-American teenager and describe its unique histopathologic features.

Drug Hypersensitivity Syndrome with Prolonged Course Complicated by Parvovirus Infection.

Drug hypersensitivity syndrome (DHS) is a severe medication reaction involving multiple organ systems that is characterized by rash, lymphadenopathy, and laboratory aberrations, including hepatic enzyme changes. Viral reactivation in the setting of DHS can significantly affect the course of disease. We report two children in whom parvovirus infection prolonged and complicated their course of DHS. Most other DHS-complicating viruses are herpesviruses; this report broadens the scope of DHS-modifying infections to include activation of Parvoviridae.

Persistent Bacillus Calmette-Guerin Reaction: A Potential Clue to Underlying Immune Deficiency.

Bacillus Calmette-Guerin (BCG) vaccine complications in patients with severe combined immunodeficiency (SCID) have been well documented in the literature. We present a case in which the BCG vaccine was administered to an infant who was later diagnosed with SCID and presented with worsening localized BCG reaction upon arrival in the United States. Although the BCG vaccine is not routinely administered in the United States, it is important for physicians to be aware of potential complications of BCG vaccination since prompt treatment can be lifesaving.

Lipofibromatosis: an institutional and literature review of an uncommon entity.

We report six new cases of lipofibromatosis, an uncommon pediatric soft tissue neoplasm. This is the only series of patients to be described since the initial case series of 45 patients that characterized this entity in 2000. The purpose of this study was to characterize the presentation of lipofibromatosis to further define the clinical phenotype of this rare entity. Six patients were diagnosed with lipofibromatosis at our institution from 2000 to 2012. Patient age, sex, and ethnicity were recorded, along with tumor site and size, management, and recurrence data. Half of our patients were younger than 2 years old at presentation and the other half were school age. Boys and girls were affected with equal frequency. In five of six patients, lipofibromatosis presented in its "classic" form as a mass on the distal extremities. These tumors typically measured 1 to 2 cm in diameter, in contrast to case reports in the medical literature highlighting the occurrence of lipofibromatosis of greater size and at varied anatomic sites. The tumors in our series were managed using excision, with recurrence noted in 33%. Lipofibromatosis is an uncommon tumor typically found on the distal extremities of infants, although it can appear in various sizes and locations. It should be considered in the differential diagnosis of pediatric soft tissue neoplasms.

Infantile Digital Fibromatosis/Inclusion Body Fibromatosis: A Comprehensive Literature Review.

Infantile digital fibromatosis (IDF), or inclusion body fibromatosis, is a rare benign tumor that commonly presents as a solitary nodule composed of spindle cells within the dermis on the digits of infants and children. Evaluation often includes a biopsy and typical therapies include observation, intralesional corticosteroid injections, and complete surgical resection. Given the rarity of IDF, few clinicians have direct or extensive experience diagnosing or treating it. Here we present a comprehensive review of the presentation, diagnosis, and treatment for IDF.

Multifocal Kaposiform Hemangioendothelioma in a Newborn With Confirmatory Histopathology.

Kaposiform hemangioendothelioma is classified as a locally aggressive vascular tumor of childhood resulting from abnormal angiogenesis and lymphangiogenesis. Most commonly, KHE presents as a single tissue mass, ranging from an erythematous papule to a violaceous indurated tumor. Definitive diagnosis requires tissue sampling with the demonstration of ill-defined nodules and fascicles of spindle-shaped D2-40 positive endothelial cells, forming slit-like vascular channels. This newborn presented with multifocal cutaneous Kaposiform hemangioendothelioma associated with Kasabach-Merritt phenomenon confirmed on histopathology with immunostaining.

Care of Congenital Melanocytic Nevi in Newborns and Infants: Review and Management Recommendations.

A pediatric dermatology expert working group performed a narrative review to describe care related to congenital melanocytic nevi (CMN) in neonates and infants. There are no published guidelines for most aspects of care, including routine skin care and visit intervals. Few guidelines exist for surgical management; newer recommendations favor conservative practice. Emerging evidence contributes to recommendations for screening MRI to evaluate for neural melanosis and related central nervous system complications, however, more research is needed. Risk for melanoma is generally low, but those with large, giant, or multiple CMN have a higher risk. Multidisciplinary care, with a focus on family and patient preferences, is of paramount importance. Without standardized screening and management guidelines, questions abound regarding appropriate physical examination intervals, potential treatment including full or partial excision, timing and frequency of imaging, melanoma risk, and assessment for neural melanosis. This review highlights the current state of knowledge concerning care of patients with CMN, reveals gaps in the literature surrounding skin care, and provides management recommendations. We additionally discuss cutaneous complications of CMN, such as pruritus, hypertrichosis, and wound healing. Resources and references for families and providers can help patients navigate this sometimes challenging diagnosis. Finally, we contribute expert care recommendations to the current body of literature as a foundation for the development of future, more comprehensive care guidelines.

SPOTS: signaling protein oligomeric transduction structures are early mediators of death receptor-induced apoptosis at the plasma membrane.

Fas (CD95, APO-1, TNFRSF6) is a TNF receptor superfamily member that directly triggers apoptosis and contributes to the maintenance of lymphocyte homeostasis and prevention of autoimmunity. Although FADD and caspase-8 have been identified as key intracellular mediators of Fas signaling, it is not clear how recruitment of these proteins to the Fas death domain leads to activation of caspase-8 in the receptor signaling complex. We have used high-resolution confocal microscopy and live cell imaging to study the sequelae of early events in Fas signaling. These studies have revealed a new stage of Fas signaling in which receptor ligation leads to the formation of surface receptor oligomers that we term signaling protein oligomerization transduction structures (SPOTS). Formation of SPOTS depends on the presence of an intact Fas death domain and FADD but is independent of caspase activity. Analysis of cells expressing Fas mutations from patients with the autoimmune lymphoproliferative syndrome (ALPS) reveals that formation of SPOTS can be disrupted by distinct mechanisms in ALPS.