Homozygous CARD14 variant presenting as infantile erythroderma.

A wide range of inherited and acquired conditions can manifest as infantile erythroderma, among which CARD14-associated papulosquamous eruption (CAPE) is a rare cause. An infant boy presented with a psoriasiform rash that progressed to erythroderma and was unresponsive to topical steroids and cyclosporine. The early onset of the disease, its severity and resistance to conventional treatment were suggestive of a genetic cause. Genetic evaluation revealed a homozygous CARD14 variant of uncertain significance establishing the diagnosis of CAPE, and his parents were heterozygous carriers. There was only minimal improvement in the condition with supportive management and treatment with acitretin. Unfortunately, the child succumbed to sepsis and metabolic complications following a sudden worsening of skin disease. This case highlights the significance of genetic studies in diagnosing treatment-refractory cases of infantile erythroderma and emphasises the importance of early recognition of this rare condition.

Erythroderma in a Patient With Thymoma-Associated Myasthenia Gravis.

A woman in her 30s with myasthenia gravis diagnosed at age 27 years presented to the emergency department with severe erythroderma over the past 2 months. What is your diagnosis?

Crusted Scabies Presenting as Erythroderma in a Patient With Iatrogenic Immunosuppression for Treatment of Granulomatosis With Polyangiitis.

The diagnosis of scabies can be difficult when the infection presents as erythroderma. Crusted scabies is a severe form of scabies caused by cutaneous ectoparasitic infection by the mite Sarcoptes scabiei var hominis. Crusted scabies most commonly occurs in patients with underlying immunosuppression from acquired infection or subsequent to solid organ or bone marrow transplantation. We present a rare case of a patient with granulomatosis with polyangiitis (GPA) who developed azathioprine-induced myelosuppression and subsequent erythrodermic crusted scabies. It is critical to maintain a broad differential when patients present with erythroderma, especially in the setting of medication-induced immunosuppression for the treatment of autoimmune disease.

Proposal of Slovenian guidelines for the diagnosis of neonatal erythroderma with a case report of Omenn syndrome.

Diagnosing and treating neonatal and infantile erythroderma can be challenging due to the wide variety of potential causes. Neonatal erythroderma is rare and is associated with a high mortality rate due to complications of erythroderma itself and potential life-threatening underlying diseases. Prolonged erythroderma should always be a warning sign and an indication for referral to a hospital where a multidisciplinary team approach is possible. The role of a pediatric dermatologist is to keep in mind the wide spectrum of differential diagnoses that could be causing the condition and the determination of the final diagnosis. To avert a delay in establishing the correct diagnosis, we suggest adhering to specific guidelines. We reviewed available guidelines and adapted a step-by-step approach for use in Slovenia. We also discuss a case of a neonate with erythroderma to illustrate the applicability of the proposed guidelines. Our patient presented with persistent erythroderma, pustules on the trunk and limbs, and intertriginous dermatitis. Despite local corticosteroid treatment, the skin redness persisted. After the exclusion of a systemic infection and additional tests, Omenn syndrome was diagnosed as the underlying cause.

Socioeconomic predictors of cost and length of stay for erythroderma: a cross-sectional analysis of the national inpatient sample.

Erythroderma is an uncommon but serious dermatologic disorder that often requires hospitalization for diagnosis and treatment. However, little is known about predictors influencing cost and patient outcomes. The present study sought to characterize the sociodemographic factors that predict patient outcomes and hospital cost. Data were obtained from the 2016-2018 National Inpatient Sample (NIS) provided by the Healthcare Cost and Utilization Project from the Agency for Healthcare Research and Quality for patients of any age with a primary or secondary diagnosis of exfoliative dermatitis. Regression analyses were performed to find predictors for hospital costs and patient outcomes, represented by the length of stay (LOS). Univariate analysis of LOS revealed urban teaching hospitals were associated with prolonged LOS (p = 0.023). Univariate analysis of hospital cost yielded the following factors associated with increased hospital cost: Black and Asian patients (p = .045), urban teaching hospitals (p = .035), and northeast or south geographic location (p = .004). Multivariable regression analysis revealed prolonged LOS was associated with female sex (p = .043) and large bed capacity (p = .044) while shorter LOS was associated with increased age (p = .025); lower hospital costs were associated with private-owned hospitals -  (p = .025). In patients diagnosed with erythroderma, there appear to be racial, economic, and geographic disparities for patients that lead to greater hospital costs and longer LOS.

Successful treatment with ustekinumab in CARD14-associated papulosquamous eruption in a Brazilian child.

CARD14-associated papulosquamous eruption (CAPE) was proposed in 2018 to describe the clinical features of psoriasis and pityriasis rubra pilaris with CARD 14 mutations. We report a 5-month-old female infant who developed CAPE-associated erythroderma. Although she did not respond to conventional therapies, she responded well to ustekinumab treatment at the age of 4 years.

A High Programmed Cell Death Protein 1 Hormone Receptor Score on Skin Biopsy is Associated with Sézary Syndrome Diagnosis: A Study of 91 Patients with Erythroderma.

Erythroderma is challenging to diagnose. The aim of this single-centre retrospective study was to identify factors that can be used to improve the diagnosis of erythroderma. Among 91 patients with erythroderma, 21 were diagnosed with eczema, 17 with psoriasis, 20 with drug-induced erythroderma, 13 with erythrodermic mycosis fungoides and 20 with Sézary syndrome. Nail alterations, ear involvement, and severe scaling were significantly associated with psoriasis (p = 0.044). Fever and hypereosinophilia were associated with drug-induced erythroderma. Expression of programmed cell death protein 1 was observed in all skin biopsies. However, with Sézary syndrome, programmed cell death protein 1 expression was significantly higher than with other aetiologies. A programmed cell death protein 1 hormone receptor score (H-score) >50 was associated with Sézary syndrome (p < 0.001, sensitivity 75%, specificity 92%) as well as CXCL13 expression (p < 0.044). CD7 loss was more frequent with erythrodermic mycosis fungoides and Sézary syndrome (p = 0.022). This study reports the importance of programmed cell death protein 1 expression for the differential diagnosis of Sézary syndrome and other aetiologies, including erythrodermic mycosis fungoides.

[A patient with erythroderma and pruritus: Sézary syndrome]. / Een man met jeuk en roodheid van de huid.

BACKGROUND: Erythroderma could be the first sign of a cutaneous T-cell lymphoma (CTCL), such as Sézary syndrome. Causes of erythroderma include inflammatory dermatosis, toxicoderma, paraneoplastic erytroderma, and CTCL. Hence, diagnosing Sézary syndrome can be difficult. Sézary syndrome is a rare, aggressive disease characterized by erythroderma, generalized lymphadenopathy and the presence of clonally related neoplastic T-cells in skin, peripheral blood, and lymph nodes. Treatment consists of photochemotherapy (PUVA), radiotherapy, immunomodulatory agents, low dose cytotoxic agents, and intensive chemotherapy. Immunotherapy directed against CCR4 and PD1 are new, promising developments. CASE DESCRIPTION: A 51-year-old man presented with a 1-year history of progressive, itchy erythroderma and lymphocytosis. After extensive cytomorphological, histopathological and molecular examination the diagnosis of Sézary syndrome could be established. Combination treatment of interferon and photochemotherapy (PUVA) was started. CONCLUSION: Diagnostic delay in Sézary syndrome is common. Integrated cytomorphological, immunological, and molecular evaluation of peripheral blood in patients with unexplained erythroderma non-responsive to (topical) treatment is warranted.