Infantile Stevens Johnson syndrome and toxic epidermal necrolysis: A systematic review of clinical features and outcomes in children ages 12 months and under.

BACKGROUND/OBJECTIVES: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening mucocutaneous hypersensitivity reactions that carry significant morbidity and mortality. While clinical features are well documented in adult and pediatric patients, infantile cases are rarely reported. Our objective was to synthesize clinical features and outcomes in this population. METHODS: A literature search was performed from three large databases (PubMed, EMBASE, and Web of Science) to systematically identify reports of SJS/TEN in the infantile period (defined as less than 12 months of age) between 1962 and 2019. Cases determined to represent SJS/TEN based on defined criteria were included. Each case was scored based on Quality Rating Scheme for Studies and Other Evidence. The initial search yielded 4856 publications, of which 19 (n = 26) met final inclusion criteria. RESULTS: All cases for which body surface area (BSA) involvement was available or able to be approximated (n = 18/26) met criteria for TEN. All cases (n = 26) had mucous membrane involvement, with the oral mucosa most commonly affected (85.7%). Mortality was high within our population with 39.1% of infants expiring, 77.8% secondary to bacterial sepsis. The most common triggers were medications (52.4%), infections (33.3%), and vaccinations (14.3%). CONCLUSIONS: This review highlights several unique clinical findings amongst infants with SJS/TEN, including increased BSA involvement, higher rates of bacterial sepsis, and higher mortality rates compared to older children and adults. Infants are more likely to present as TEN over SJS. More research is needed to identify triggers, successful treatments, and specific outcomes in this population.

Infantile toxic epidermal necrolysis: Successful treatment of an 8-week-old with intravenous immunoglobulin and amniotic membrane transplant.

Stevens-Johnson syndrome and toxic epidermal necrolysis comprise a spectrum of severe mucocutaneous hypersensitivity reactions. A paucity of data limits current understanding of the etiology, treatment options, and prognosis of this entity in the infantile population compared to that in the adult and pediatric literature. We describe the case of an 8-week-old male with toxic epidermal necrolysis treated successfully with intravenous immunoglobulin and amniotic membrane transplant. This patient is the youngest surviving infant with toxic epidermal necrolysis to be reported.

Pediatric primary cutaneous anaplastic large cell lymphoma treated with brachytherapy.

Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) is a CD30+ lymphoproliferative disorder that rarely occurs in children. Although there are currently no consensus guidelines for the treatment of cutaneous lymphoma in the pediatric population, the isolated form of PC-ALCL is typically managed by surgical excision or external beam radiation therapy. We report the case of a 6-year-old girl with primary cutaneous anaplastic large cell lymphoma that was treated with brachytherapy with no recurrence after 21 months of follow-up, suggesting that brachytherapy may be considered as a treatment for pediatric cutaneous large cell anaplastic lymphoma.

A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.

Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations.

Acquired Immune Deficiency Syndrome-Associated Kaposi Sarcoma in a Child Presenting as a Solitary Plantar Hyperkeratotic Plaque.

BACKGROUND AND OBJECTIVE: Acquired immune deficiency syndrome (AIDS)-associated Kaposi sarcoma (KS) among the pediatric population is a rare entity in North America and Europe, and its cutaneous manifestations are not well defined in the literature. The investigators report the case of a boy with an AIDS-associated KS presenting as an infiltrated hyperkeratotic plaque of the plantar arch. METHODS AND RESULTS: An 11-year-old African boy with congenital human immunodeficiency virus (HIV) had a skin biopsy of the plantar lesion that was consistent with a KS. The patient also presented intestinal and pulmonary symptoms; combined chemotherapy regimen and highly active antiretroviral therapy were given in the presence of systemic involvement. CONCLUSION: AIDS-associated KS poses a particular challenge to clinical diagnosis, since it can manifest with a variety of lesions. Dermatologists should have a low threshold for performing a skin biopsy in patients with HIV.

Late onset leflunomide-induced cutaneous ulcers in a seronegative arthritis patient: A case report.

The differential diagnosis for chronic cutaneous ulcers is wide. Once the common causes have been excluded, infrequent ones, including drugs, should be considered. We report the case of a 67 year old woman with multiple ulcers not responding to conventional treatment. Multiple investigations including laboratory testing, skin biopsies and tissue cultures were negative. A few cases of leflunomide-induced cutaneous ulcers are reported in the literature. Our patient was on this drug for 12 years. Discontinuation of leflunomide led to ulcers resolution. This is the longest reported time interval between leflunomide initiation and ulceration onset.

A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.

Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 years of age, she developed a germinoma presenting as an invasive spinal mass. Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a KIT alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions. C-kit was also found to be overexpressed in the spinal tumor cells. We compared the features of this child to those of six previously reported pediatric patients with cutaneous mastocytosis, microcephaly, microtia, and/or hearing loss reported in OMIM as mastocytosis, conductive hearing loss, and microtia (MIM 248910), for which the etiology has not yet been determined. This report extends the currently recognized spectrum of KIT-related disorders and provides clues as to the potential etiology of a syndromic form of congenital mastocytosis. International efforts to understand the benefits of long-term targeted therapy with tyrosine kinase inhibitors for this KIT-altered rare disease should continue to be evaluated in clinical trials.