The differential panorama of clinical features of lupus erythematosus patients with different onset ages: a cross-sectional multicenter study from China.

OBJECTIVES: This study aims to compare the differences among patients of different onset ages in various subtypes of lupus erythematosus (LE) and to draw a panorama of the clinical characteristics of patients with different onset ages. METHOD: Subjects were recruited from the Lupus Erythematosus Multicenter Case-control Study in Chinese populations (LEMCSC), grouped by the age of onset (childhood-onset: onset < 18 years, adult-onset: onset 18-50 years, late-onset: onset > 50 years). The data collected included demographic characteristics, LE-related systemic involvement, LE-related mucocutaneous manifestations, and laboratory results. All included patients were assigned into three groups: systemic LE (SLE) group (with systemic involvement, with or without mucocutaneous lesions), cutaneous LE (CLE) group (patients who were accompanied by any type of LE-specific cutaneous manifestations), and isolated cutaneous LE (iCLE) group (patients who were in CLE group without systemic involvements). Data were analyzed using R version 4.0.3. RESULTS: A total of 2097 patients were involved, including 1865 with SLE and 232 with iCLE. We also identified 1648 patients with CLE among them, as there was some overlap between the SLE population and CLE population (patients with SLE and LE-specific cutaneous manifestations). Later-onset lupus patients seemed to be less female predominance (p < 0.001) and have less systemic involvement (except arthritis), lower positive rates of autoimmune antibodies, less ACLE, and more DLE. Moreover, childhood-onset SLE patients presented a higher risk of LE family history (p = 0.002, vs adult-onset SLE). In contrast to other LE-nonspecific manifestations, the self-reported photosensitivity history decreased with the age of onset in SLE patients (51.8%, 43.4%, and 39.1%, respectively) but increased in iCLE patients (42.4%, 64.9%, and 89.2%, respectively). There was also a gradual increase in self-reported photosensitivity from SLE, CLE, to iCLE in both adult-onset and late-onset lupus patients. CONCLUSIONS: A negative correlation was suggested between the age of onset and the likelihood of systemic involvement, except for arthritis. As the age of onset increases, patients have a greater propensity to exhibit DLE compared to ACLE. Moreover, the presence of rapid response photodermatitis (i.e., self-reported photosensitivity) was associated with a lower rate of systemic involvement. TRIAL REGISTRATION: This study was registered with the Chinese Clinical Trial Registry (registration number: ChiCTR2100048939) on July 19, 2021, retrospectively registered. Key Points • We confirmed some phenomena that have been found in patients with SLE, such as the highest proportion of females of reproductive age, the higher risk of LE family history in childhood-onset SLE patients, and the less self-reported photosensitivity in the late-onset SLE group. We also compared the similarities and differences of these phenomena in patients with CLE or iCLE for the first time. • In patients with SLE, the proportion of females peaked in adult-onset patients, but this phenomenon disappeared in iCLE patients: the female-male ratio tends to decrease from childhood-onset iCLE, adult-onset iCLE, to late-onset iCLE. • Patients with early-onset lupus are more likely to have acute cutaneous lupus erythematosus (ACLE), and patients with late-onset lupus are more likely to have discoid lupus erythematosus (DLE). • In contrast to other LE-nonspecific manifestations, the incidence of rapid response photodermatitis (i.e., self-reported photosensitivity) decreased with the age of onset in SLE patients but increased with the age of onset in iCLE patients.

Annular elastolytic giant cell granuloma in a woman with metabolic syndrome.

Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin condition. It belongs to a group of skin and elastic fiber disorders. When it affects sun-exposed skin, it is also called actinic granuloma. The etiology and pathogenesis are still debated. However, sun-induced actinic damage to elastic fibers is acknowledged as the primary triggering factor, though the pathogenesis of instances in sun-covered areas is unknown. The most commonly linked systemic illness is diabetes mellitus. Different case reports show an association of this disease with hematological conditions, infections, sarcoidosis, and protoporphyria. Multisystemic involvement was also reported in a case. The disease is clinically recognized by erythematous non-scaly annular patches and plaques with raised borders and hypopigmented or skin-colored centers, sometimes atrophic. It is usually asymptomatic or mildly itchy. The presence of an inflammatory infiltration with non-palisading granulomas, multinucleate large cells, elastin degradation, and elastophagocytosis, as well as the absence of necrobiosis and mucin, are histopathological characteristics. We report a 5-year history of annular elastolytic giant cell granuloma in a 66-year-old woman with a history of type two diabetes mellitus, hypertension, and fatty liver disease (steatosis). She presented with asymptomatic polymorphic erythematous skin lesions mainly in sun-exposed areas.

Ocular manifestations in Kindler syndrome.

We aimed describe the chronic ocular sequelae of Kindler syndrome. All cases of Kindler syndrome with ocular involvement that presented to a tertiary eye care center were included. Three cases of Kindler syndrome with ocular changes were reviewed. Case 1 (10 years, female) had recurrent epithelial breakdown with severe dry eye and corneal opacity secondary to keratitis. Case 2 (28 years, male) had symblepharon , ocular surface keratinization , and severe dry eye. Case 3 (16 years , female ) had partial limbal stem cell deficiency with dry eye. All cases were treated with topical lubricants, short course of low-potency steroids and immuno-modulators. Attention must be paid to the eye in addition to the oro-an-genital mucosa to avoid longterm ocular sequelae.

The Risk of Cutaneous Squamous Cell Carcinoma Among Patients with Type 2 Diabetes Receiving Hydrochlorothiazide: A Cohort Study.

BACKGROUND: Because of continuous hyperglycemia and hyperinsulinemia and the use of photosensitizing drug, hydrochlorothiazide (HCTZ), the risk of cutaneous squamous cell carcinoma (cSCC) might be increased among patients with diabetes. This study aimed to estimate the risk of cSCC among HCTZ users with type 2 diabetes, and to determine whether thiazide-like diuretics, another drug in the same class with HCTZ, would be safer. METHODS: We linked the benchmarking database in Dutch primary care, the Netherlands Cancer Registry, and the Dutch Personal Records Database (1998-2019). All 71,648 patients were included, except for those who had a history of skin cancer prior to cohort entry. We used Cox modeling to estimate the HRs and 95% confidence intervals for cSCC. The model was adjusted by cumulative exposure to each antihypertensive, age, sex, smoking, body mass index, blood pressure, serum creatinine, other confounding drug use at cohort entry, and cohort entry year. RESULTS: There were 1,409 cSCC events (23 among thiazide-like diuretics users), during a follow-up of 679,789 person-years. Compared with no HCTZ use, the adjusted HRs for HCTZ use were 1.18 (1.00-1.40) for ≤2 years, 1.57 (1.32-1.88) for 2 to 4 years, and 2.09 (1.73-2.52) for >4 years. The HR was 0.90 (0.79-1.03) for an additional year of thiazide-like diuretic use. CONCLUSIONS: In patients with diabetes, exposure to HCTZ for >2 years is associated with an increased risk of cSCC, whereas no increased risk associated with thiazide-like diuretics was observed. IMPACT: The potential increased risk of cSCC should be a consideration when prescribing HCTZ, with thiazide-like diuretics offering a safer alternative.

Functional connectivity disturbances of ascending reticular activating system and posterior thalamus in juvenile myoclonic epilepsy in relation with photosensitivity: A resting-state fMRI study.

OBJECTIVE: Juvenile myoclonic epilepsy (JME) is typified by the occurrence of myoclonic seizures after awakening, though another common trait is myoclonic seizures triggered by photic stimulation. We aimed to investigate the functional connectivity (FC) of nuclei in the ascending reticular activating system (ARAS), thalamus and visual cortex in JME with and without photosensitivity. METHODS: We examined 29 patients with JME (16 photosensitive (PS), 13 non- photosensitive-(NPS)) and 28 healthy controls (HCs) using resting-state functional magnetic resonance imaging (rs-fMRI). Seed-to-voxel FC analyses were performed using 25 seeds, including the thalamus, visual cortex, and ARAS nuclei. RESULTS: Mesencephalic reticular formation seed revealed significant hyperconnectivity between the bilateral paracingulate gyrus and anterior cingulate cortex in JME group, and in both JME-PS and JME-NPS subgroups compared to HCs (pFWE-corr < 0.001; pFWE-corr < 0.001; pFWE-corr = 0.002, respectively). Locus coeruleus seed displayed significant hyperconnectivity with the bilateral lingual gyri, intracalcarine cortices, occipital poles and left occipital fusiform gyrus in JME-PS group compared to HCs (pFWE-corr <0.001). Additionally, locus coeruleus seed showed significant hyperconnectivity in JME-PS group compared to JME-NPS group with a cluster corresponding to the bilateral lingual gyri and right intracalcarine cortex (pFWE-corr < 0.001). Lastly, the right posterior nuclei of thalamus revealed significant hyperconnectivity with the right superior lateral occipital cortex in JME-PS group compared to HCs (pFWE-corr < 0.002). CONCLUSIONS: In JME, altered functional connectivity of the arousal networks might contribute to the understanding of myoclonia after awakening, whereas increased connectivity of posterior thalamus might explain photosensitivity.

An unusual case of parotid gland B-cell lymphoma complicating Sjögren Syndrome / Un caso inusual de linfoma de células B de la glándula parótida a complicar el Síndrome de Sjögren

Sjögren Syndrome is a multisystemic autoimmune disease that is heterogeneous in its presentation, course and outcome. There is no single clinical, laboratorial or radiological feature that serves as gold standard for the diagnosis and/or classification of this syndrome. The occurrence of lymphoma is known to be one of the most severe complications. We report a case of a 66-year-old female diagnosed with Sjögren Syndrome secondary to systemic lupus erythematous that presented with an enlargement of the left parotid gland consistent with the diagnosis of lymphoma confirmed with biopsy. She received chemotherapy with favorable response and today is asymptomatic with hydroxychloroquine 400mg id. This case report highlights the importance of optimal interventions and active surveillance of Sjogren Syndrome, in order to achieve an early identification of its complications and to prevent worse outcomes of this disease

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Síndrome de Kindler, manejo multidisciplinario / Kindler Syndrome: A Multidisciplinary Management Approach

El síndrome de Kindler es un subtipo de epidermólisis bullosa hereditaria muy rara, causada por la mutación del gen FERMT1 que codifica la proteína kindlina-1. Clínicamente, se caracteriza por la formación de ampollas inducidas por traumatismo, atrofia cutánea difusa, poiquilodermia, seudosindactilia y fotosensibilidad. En las mucosas, las manifestaciones más frecuentes incluyen conjuntivitis, ectropión, gingivitis hemorrágicas, enfermedad periodontal, pérdida prematura de dientes y colitis severa. Presentamos los 4 primeros casos con síndrome de Kindler, diagnosticados en el Instituto Nacional de Salud del Niño, Lima, Perú, con el fin de dar a conocer su particular forma de presentación y variedad de manifestaciones clínicas, enfatizando en que este hecho obligó a realizar un manejo multidisciplinario, que permitió un control adecuado de los síntomas y una notable mejoría en su calidad de vida

Kindler syndrome is a very rare form of bullous epidermolysis. It is a hereditary condition caused by a mutation in the FERMT1 gene that encodes the protein kindlin-1. It is clinically characterized by trauma-induced blistering, diffuse skin atrophy, poikiloderma, pseudosyndactyly, and photosensitivity. The most common mucosal manifestations are conjunctivitis, ectropion, hemorrhagic gingivitis, periodontal disease, premature tooth loss, and severe colitis. We present the first 4 cases of Kindler syndrome diagnosed at the Instituto Nacional de Salud del Niño in Lima, Peru. These cases highlight the unique clinical presentation and multiple manifestations of this disease and show how a multidisciplinary management approach kept symptoms under control and significantly improved patient quality of life

[Voriconazole-induced lentigines on photo-exposed skin: A little-known complication]. / Lentigines des zones photo-exposées induites par le voriconazole : une complication mal connue.

BACKGROUND: The appearance of diffuse lentigines in children is rare and a genetic syndrome should initially be envisaged. Another little-known cause of photo-distributed lentigines is use of voriconazole. We present a new case in which the original feature is the very short time of onset. PATIENTS AND METHODS: A 9-year-old immunosuppressed girl treated with voriconazole for 3 months presented lentigines in exposed areas after only 4 weeks of exposure. DISCUSSION: The literature contains only around ten cases of photo-distributed lentigines under voriconazole in children. The condition can appear very early, as in our case. Voriconazole also appears to induce cutaneous squamous cell carcinomas and even melanoma. The benefit-risk ratio of prescribing this drug must therefore be carefully evaluated, and close clinical monitoring and photoprotection must be instituted.

A qualitative study of knowledge, behaviour and attitudes regarding vitamin D acquisition among patients with photosensitivity disorders.

BACKGROUND: Cutaneous exposure to sunlight is a major source of vitamin D. Individuals with photosensitivity disorders have symptoms provoked by sunlight and may not achieve the brief sunlight exposures that convey vitamin D acquisition. OBJECTIVE: To explore knowledge, behaviour and attitudes towards vitamin D and its acquisition in patients with photosensitivity. METHODS: Patients (n = 19) diagnosed with solar urticaria, erythropoietic protoporphyria or polymorphic light eruption at a specialist photoinvestigation centre participated in semi-structured focus groups to discuss vitamin D knowledge, acquisition behaviours and attitudes towards vitamin D acquisition through sunlight and diet. Discussions were analysed by thematic analysis using MAXQDA11. RESULTS: Knowledge of vitamin D was variable. There was good awareness that sunlight exposure is an important source but knowledge of dietary sources was poor. Patients had little concern for their own vitamin D status prior to attending the photoinvestigation centre. Most patients avoided sunlight exposure, were unable to achieve the guidance on sun exposure for healthy individuals and were aware this could affect their vitamin D status. Use of oral vitamin D supplements was common, and all were willing to consider supplements if required. Patients recommended improving education of clinicians to increase patient awareness of vitamin D, CONCLUSIONS: More targeted guidance is required on acquisition of vitamin D for patients with photosensitivity, supported by increased patient and clinician education.

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of squamous cell carcinoma (SCC) in these patients. SCC developed in 13 of the 91 patients. RESULTS: The youngest case arose in a 29-year-old patient; however, the cumulative risk of SCC increased to 66.7% in patients over 60 years of age. The highly aggressive nature of SCCs in KS was confirmed showing that 53.8% of the patients bearing SCCs develop metastatic disease. Our data also showed there are no specific mutations that correlate directly with the development of SCC; however, the mutational distribution along the gene appears to be different in patients bearing SCC from SCC-free patients. The body distribution of the tumor appearance was also unique and different from other bullous diseases, being concentrated in the hands and around the oral cavity, which are areas of high inflammation in this disease. CONCLUSIONS: This study characterizes SCCs in the largest series of KS patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT-1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in KS patients.

Coexistencia de lupus eritematoso túmido y lupus eritematoso discoide / Coexistence of Tumid Lupus Erythematosus and Discoid Lupus Erythematosus

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Unusual photodermatosis with lichenoid eruption and apoptosis in a 33-year-old female.

We describe the clinical and dermoscopic features and histopathological findings in a case of a 33-year-old female patient with an adult-onset photodermatosis. This eruption was not typical of well-established photodermatoses due to its apoptotic keratinocytes. To our knowledge, this is the first report of these combined clinical and pathologic features.