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.

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.

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.

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.

Mucocutaneous Adverse Events Associated With Oral Sirolimus for the Treatment of Vascular Anomalies.

This case series examines the clinical spectrum and frequency of mucocutaneous adverse events related to oral sirolimus in populations with vascular anomalies.

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.

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.