White fibrous papulosis of the neck: a chinese case

A 48-year-old man who presented with papules on his neck was reported. The patient had multiple, discrete, non-follicular papules on the neck that were round-to-oval, 2--3 mm in diameter and pale. They had remained entirely asymptomatic. On histologic examination, there were circumscribed areas of thickened collagen bundles in the papillary to mid-dermis. This clinical and histologic picture suggested the diagnosis of "white fibrous papulosis of the neck". As far as we are aware, this is the first report of the condition from China.     

Late-onset focal dermal elastosis: an uncommon mimicker of pseudoxanthoma elasticum

Late-onset focal dermal elastosis is a rare disorder that presents clinically with the development of small white-to-yellow papules simulating pseudoxanthoma elasticum (PXE) in otherwise healthy adults in the seventh through ninth decades. It is characterized histopathologically by foci of increased normal-appearing elastic tissue in the reticular dermis. The disorder lacks any of the systemic complications of PXE and clinically resembles several other elastic tissue disorders that mimic PXE. We report two cases of late-onset focal dermal elastosis. The first is of a 75-year-old female who presented with symmetrically distributed, 2-5 mm white-to-yellow, discrete and coalescing, non-follicular papules on the posterolateral neck, anterior chest and axillae. The second case involves a 39-year-old female who presented with asymptomatic flesh-colored lesions on the posterior neck, back, antecubital and popliteal fossae, thighs, forearms and wrists. Skin biopsies in each case revealed aggregates of elastic fibers in the reticular dermis without calcification. The differential diagnosis of clinical and histopathologic imitators of PXE is discussed.     

Classic pseudoxanthoma elasticum in a girl with sickle cell disease

A pseudoxanthoma elasticum (PXE)–like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta‐thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE‐like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE‐like phenotype and that the pathogenesis of PXE manifestations in beta‐thalassemia and sickle cell disease may differ.     

Pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene

Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder of connective tissue. We describe a patient with PXE who does not have mutations in exons 16, 24, 27, 28, and 30 of the MRP6 gene.     

Erysipelas‐like erythema of familial Mediterranean fever syndrome: a case report with emphasis on histopathologic diagnostic clues

We report histopathological findings in a case of familial Mediterranean fever (FMF) syndrome with an erysipelas‐like erythema (ELE). ELE is the only pathognomic cutaneous manifestation of FMF. ELE is characterized by well‐demarcated, tender, erythematous and infiltrated plaques recurring on the same site and resolving spontaneously within 48–72 h. FMF is a monogenic autoinflammatory syndrome highlighted by recurrent fever associated with polyserositis involving mainly the peritoneum, synovium and pleura. FMF results from a mutation of the MEFV gene, which encodes for pyrin, leading to Il‐1β activation and promoting neutrophil migration into the dermis. Histopathological findings in our case showed a sparse superficial perivascular and interstitial lymphocytic infiltrate admixed with some neutrophils, no eosinophils and mild papillary dermal edema. Venules and lymphatics were dilated, though no vasculitis was identified. Neutrophils are the most common cutaneous marker of autoinflammation, and cutaneous manifestations of monogenic autoinflammatory syndromes are represented by the spectrum of aseptic neutrophilic dermatoses. Neutrophils in the presence of recurrent fever and in the correct clinical context of recurrent erysipelas in the same site are a diagnostic clue for FMF.     

A case of pemphigus vulgaris successfully treated with single filtration plasmapheresis: a correlation of clinical disease activity with serum antibody levels

We report a patient with pemphigus vulgaris (PV) successfully treated with single filtration plasmapheresis. A 40-year-old man with PV was started on therapy with prednisolone (PSL). Although the dosage of PSL was doubled, and both cyclosporin A (CyA) and pulse therapy were added, the disease was not controlled. After single filtration plasmapheresis began, most of the eroded lesions on the trunk reepithelialized. A switch to double filtration was followed by recurrence. Finally, additional treatments with single filtration plasmapheresis were required to obtain remission. To evaluate the efficacy of the treatment, circulating antibodies were measured by immunofluorescence (IIF) and enzyme-linked immunosorbent assays (ELISAs) using recombinant desmoglein (Dsg) 3. IIF titer and the ELISA scores correlated with the clinical disease activity. It is suggested that ELISA was more sensitive than IIF.     

Challenges in sarcoidosis and sarcoid‐like reactions associated to immune checkpoint inhibitors: A narrative review apropos of a case

Sarcoidosis and sarcoid‐like reactions (SLRs) may develop in association with various malignancies, as well as in association to certain oncologic drugs, including immune checkpoint inhibitors (ICIs). We aimed to perform a narrative review with regard to the development of ICIs‐associated sarcoidosis or SLRs, and to discuss the corresponding diagnostic and therapeutic challenges raised in this scenario. Apropos of a melanoma patient developing SLRs while treated with ipilimumab and nivolumab, we searched for clinically evident, ICIs‐associated sarcoidosis or SLRs in the English literature. We recorded the oncologic characteristics, including type of malignancy and type of ICI, the phenotypic characteristics of sarcoidosis/SLRs, as well as the impact on immunotherapy. Including our patient, we identified 80 ICIs‐associated sarcoidosis or SLRs cases. Both sexes were equally affected (40 F/40 M) and the most common malignancy was melanoma (65/80, 81.3%). Concerning the oncologic treatment, there was a predilection for pembrolizumab (23/80, 28.7%), followed by the ipilimumab/nivolumab combination (21/80, 26.3%), ipilimumab (18/80, 22.5%), nivolumab (16/80, 20.0%). Although in the majority of the cases (52/80, 65.0%) there was no need for systemic prednisolone for the management of sarcoidosis, a significant proportion of patients finally discontinued ICIs treatment (44/80, 55.0%). Phenotypically, sarcoidosis and SLRs highly imitate oncologic progression posing diagnostic difficulties. A therapeutic dilemma is also raised when there is a need for systemic prednisolone, since the latter may jeopardize the therapeutic efficacy of immunotherapy. Sarcoidosis and SLRs, though rare, can present in oncologic patients treated with ICIs. Clinicians should be aware of this possibility and the related diagnostic and therapeutic challenges they have to face in this scenario.     

Novel use of Autoinflammatory Diseases Activity Index (AIDAI) captures skin and extracutaneous features to help manage pediatric DITRA: A case report and a proposal for a modified disease activity index in autoinflammatory keratinization disorders

Generalized pustular psoriasis (GPP) is a severe form of psoriasis, which is rare in pediatric and adult patients. It is characterized by sterile pustular lesions that appear on erythematous skin, associated with systemic features. A recent identification of mutations in the IL36RN gene in some GPP patients has led to a diagnosis of new autoinflammatory disease, interleukin-36-receptor antagonist deficiency (DITRA). DITRA represents an emerging group of autoinflammatory diseases with hyperkeratotic skin involvement, called autoinflammatory keratinization diseases (AIKD). DITRA diagnosis and management are challenging as neither DITRA-specific clinical assessment tools nor treatment trials exist. Autoinflammatory Diseases Activity Index (AIDAI) is a validated tool originally developed to evaluate disease activity and treatment response in other inherited autoinflammatory diseases with systemic and skin involvement. We report the first use of AIDAI in a pediatric DITRA patient with the following goals: (a) to describe the contribution of AIDAI to our patient's management; (b) to identify potential limitations of AIDAI in DITRA; (c) to review literature for current psoriasis assessment tools; and (d) to propose a preliminary DITRA/AIKD disease activity index (DITRA/AIDAI) to be validated in future studies.