Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report.

Objectives: Deficiency of adenosine deaminase 2 (DADA2) is a rare, recessively inherited autoinflammatory disease with a wide clinical spectrum of manifestations, including strokes and vasculitis. Methods: We report a case of a patient with DADA2 who presented with neurologic manifestations. Results: A 42-year-old woman with a known diagnosis of polyarteritis nodosa experienced several episodes of TIAs. Neuroimaging revealed 2 aneurysms in unusual locations. Her young age, ethnic origin, absent of cardiovascular risk factors, and skin involvement raised the suspicion of DADA2. Genetic testing confirmed the diagnosis, and a directed treatment with anti-TNF was initiated. Discussion: DADA2, although thought to be rare, needs to be borne in mind when evaluating patients with a combination of neurologic and systemic symptoms, as early diagnosis and treatment are imperative in preventing permanent disability.

Pediatric Contact Dermatitis: A 10-Year Multicenter Retrospective Study.

Background: Although allergic contact dermatitis (ACD) is relatively common in the adult and pediatric populations alike, few studies describe the special features of contact sensitization among the Israeli pediatric populations, none of them is multicenter. Our study aims to describe and analyze patch test results and trends in 4 tertiary care centers between 2012 and 2022. Methods: We assessed the results of 357 patch tests performed on children 0-18 years old between 2012 and 2022 in designated clinics in 4 tertiary medical centers. All patients were tested using the European baseline series and additional series as clinically indicated. We assessed the demographic features, atopic features, and influence, as well as the main allergens to cause sensitization and allergic contact dermatitis among the pediatric population. Results: In total 69% of the study population were females, mainly 12-18 years old, 35% of the study population were previously diagnosed with atopic dermatitis, and 57% had an atopic diathesis. Females were more commonly sensitized (P < 0.05). Patients without atopic dermatitis were more commonly diagnosed with ACD and had more reactions on patch test (P < 0.05). The most common allergens to cause ACD are preservatives and metals, as previously described, however, acrylate sensitivity is an emerging group that has not been described among the Israeli pediatric population in previous studies. Fragrance mix 2 and Mroxylon pereirae are relatively rare allergens among the Israeli pediatric population, whereas linalool hyperoxide might be considered an emerging allergen. Methylisothiazolinone causes ACD more frequently among patients without atopic dermatitis (P < 0.05). Conclusions: Among the Israeli pediatric population, ACD is more common in females without atopic dermatitis. Acrylates become a common culprit and should be included in baseline series. Patients with atopic dermatitis are less frequently sensitized by methylisothiazolinone.

Exacerbation of Hailey-Hailey Disease Following SARS-CoV-2 Vaccination.

is missing (Short communication).

[CHRONIC DERMATITIS OF THE DORSUM OF THE FEET AND SHINS, DUE TO ALLERGIC CONTACT DERMATITIS TO LEATHER PRODUCTS].

INTRODUCTION: A 40 year old woman presented with dermatitis mainly involving her dorsal feet and shins, a condition which was present for a prolonged period of time. The distribution was suggestive of allergic contact dermatitis, possibly to her shoes. Patch tests disclosed allergy to chromates, cobalt, colophony, all present in leather products, and allergy to myroxylon pereirae (Balsam of Peru). The patient was instructed to avoid wearing some of her shoes and sitting on her leather sofa. As a consequence, her symptoms ameliorated. This case demonstrates the importance of patch testing with correct interpretation and advice to improve quality of life in patients with dermatitis.

Lymphatic Dissemination in Cutaneous Leishmaniasis Following Local Treatment.

Cutaneous leishmaniasis (CL) is diverse in its clinical presentation but usually demonstrates an erythematous, infiltrated, ulcerated, and crusted papule or nodule in exposed areas of the body. Rare clinical features have been reported including lymphatic dissemination, usually with subcutaneous nodules along lymphatic channels. Herein, we present six patients suffering from Old World CL with lymphatic dissemination characterized by sporotrichoid subcutaneous nodules along the lymphatic channels draining the primary lesion. Patients' history, clinical and laboratory findings were collected and summarized. Lymphatic dissemination of CL in our patients manifested as subcutaneous nodules without epidermal involvement within the axis of lymphatic drainage toward the regional lymph node, at times accompanied by regional lymphadenopathy. In all patients, the lymphatic dissemination was not present at initial diagnosis of CL, appearing only after local (topical or intralesional) treatment was initiated. In three patients, the subcutaneous nodules resolved without systemic treatment. Lymphatic dissemination of Old World CL is not uncommon and may possibly be triggered by local treatment. It should be recognized by dermatologists, especially those working in endemic areas. Systemic treatment may be not necessary since spontaneous resolution may occur.

Valproic acid hypersensitivity and desensitization.

Rash, a hypersensitivity reaction, is a common cause of withdrawal from an effective antiepileptic drug (AED) in patients with epilepsy. We present a case of successful desensitization to valproic acid in a 12-year-old male with childhood absence epilepsy and a hypersensitivity reaction, whose epilepsy did not respond to other AEDs. Desensitization is a practical therapeutic solution for patients who develop a non-life-threatening hypersensitivity reaction to an AED for which there may be no substitute.

Yellow Feet in a Patient with Breast and Thyroid Carcinoma, Due to Oral Intake of Turmeric.

Yellow discoloration of the skin may be caused by several etiologies, including jaundice, hypervitaminosis, drug reaction or chemical exposure. Herein we describe a 68-year-old woman with a history of breast and thyroid carcinoma, presenting with a yellow discoloration of her soles, after ingestion of one capsule a day of turmeric root extract (Bluebonnet Turmeric Root, 500 mg, Vcap), taken for its anti-cancer properties, for 4 months. After drug cessation, the yellow hue disappeared completely. A Naranjo assessment score of 5 was obtained, indicating a probable relationship between the patient's symptom and her use of the drug. Curcumin, a mixture of diferuloymethane derivatives known as curcuminoids, is a yellow pigment present in the spice turmeric. Topical application of curcumin to the human skin is joined by orange-yellow discoloration. To the best of our knowledge, yellow skin discoloration after oral intake of turmeric is not mentioned in the medical literature.

IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient.

Deficiency of interleukin-36 (IL-36) receptor antagonist (DITRA; OMIM 614204) is a rare autoinflammatory disorder characterized by periodic fever associated with a generalized erythematous and pustular skin rash. A 6-year-old Arab-Palestinian boy presented with a history of periodic fever and unremitting, erythematous, scaly skin rash accompanied by widespread pustules that had been present since the age of one month. The patient's skin lesions were compatible with generalized pustular psoriasis. Sequence analysis revealed a homozygous nonsense mutation, c.28C>T (p.Arg10X) in the IL36RN gene. The patient improved with oral methotrexate in combination with oral and topical corticosteroids. The molecular basis for DITRA has only recently been identified, and the mutation spectrum for this disorder in many populations is still obscure. This paper reports the presence of the c.28C>T mutation in an Arab-Palestinian patient and thus represents the first description of this mutation in a non-Japanese subject.

Familial trichotillomania in three generations.

Trichotillomania (TTM) is a type of impulse control disorder, characterized by recurrent pulling of hair. The etiology of TTM is complex, but a genetic contribution to this condition was advocated based on a limited number of reports on familial TTM. We report a 13-year-old male with history of focal hair loss in the scalp. Examination showed a patchy area of hair loss, with several short broken hairs of varying lengths. Dermoscopy and pathology examinations were consistent with TTM. Upon further questioning, his father admitted repeated pulling of his beard. The paternal grandfather also suffers from severe hair pulling of his beard since puberty. To our knowledge, this is the first report of TTM in a 3 generation family. This report strengthens the possibility that TTM is a genetic disease, probably with a complex inheritance pattern. It also highlights the importance of appropriate family history taking when examining a TTM patient.

A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.

The XPD protein plays a pivotal role in basal transcription and in nucleotide excision repair (NER) as one of the ten known components of the transcription factor TFIIH. Mutations in XPD can result in the DNA repair-deficient diseases xeroderma pigmentosum (XP), trichothiodystrophy (TTD), cerebro-oculo-facial-skeletal syndrome, and in combined phenotypes such as XP/Cockayne syndrome and XP/TTD. We describe here an 18-year-old individual with mild sun sensitivity, no neurological abnormalities and no tumors, who carries a p.R683Q mutation in one allele, and the novel p.R616Q mutation in the other allele of the XPD gene. We also describe four patients from one family, homozygous for the identical p.R683Q mutation in XPD, who exhibit mild skin pigmentation and loss of tendon reflexes. Three homozygous patients presented with late-onset skin tumors, and two with features of premature aging and moderate cognitive decline. Cells from the compound heterozygous individual and from one of the patients homozygous for p.R683Q exhibited similar responses to UV irradiation: reduced viability and defective overall removal of UV-induced cyclobutane pyrimidine dimers, implying deficient global genomic NER. Cells from the compound heterozygous subject also failed to recover RNA synthesis after UV, indicating defective transcription-coupled NER. Mutations affecting codon 616 in XPD generally result in functionally null proteins; we hypothesize that the phenotype of the heterozygous patient results solely from expression of the p.R683Q allele. This study illustrates the importance of detailed follow up with sun sensitive individuals, to ensure appropriate prophylaxis and to understand the mechanistic basis of the implicated hereditary disease.

Non-invasive skin biomarkers quantification of psoriasis and atopic dermatitis: cytokines, antioxidants and psoriatic skin auto-fluorescence.

BACKGROUND: Psoriasis and atopic dermatitis (AD) are challenging to treat due to the absence of suitable monitoring procedure and their recurrences. Alteration of skin hydrophilic biomarkers (SHB) and structural elements occur in both disorders and may possess a distinct profile for each clinical condition. OBJECTIVE: To quantify skin cytokines and antioxidants non-invasively in psoriatic and in AD patients and to evaluate skin auto-fluorescence in psoriatic patients. METHODS: A skin wash sampling technique was utilized to detect the expression of SHB on psoriatic and AD patients and healthy controls. Inflammatory cytokine (TNFα, IL-1α and IL-6) levels, total antioxidant scavenging capacity and uric acid content were estimated. Additionally, measurement of the fluorescent emission spectra of tryptophan moieties, collagen cross-links and elastin cross-links were performed on psoriatic patients and healthy controls. RESULTS: Our findings demonstrate significant alterations of the SHB levels among psoriasis, AD and healthy skin. Differences were also observed between lesional and non-lesional areas in patients with psoriasis and AD. Ultra-structural changes were found in psoriatic patients both in lesional and non-lesional areas. CONCLUSION: Employing non-invasive measurements of skin wash sampling and skin auto-fluorescence might serve as complementary analysis for improved diagnosis and treatment of psoriasis and AD. Furthermore, they may serve as an additional monitoring tool for various diseases, in which skin dysfunction is involved.