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VEXAS syndrome was recently discovered in patients who developed late in adulthood an inflammatory syndrome with fever, cytopenias, dysplastic bone marrow, cutaneous and pulmonary neutrophilic inflammation, arthritis, chondritis, or vasculitis. It is the result of an inactivating somatic mutation affecting methionine codon 41 of the UBA1 gene which encodes an ubiquitin activating enzyme (E1). Systemic corticosteroids generally reduce symptoms, while other immunosuppressive drugs only have limited long-term effects. Azacitidine is a promising treatment, but further studies are warranted. Here, we describe 2 new cases including one associated with pyoderma gangrenosum and cryoglobulinemia., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Many types of genodermatosis exist, with numerous modes of transmission. The development of molecular genetic methods, in particular the most recent sequencing techniques, can be used to identify an increasing number of genes involved in these forms of genodermatosis while providing confirmation or more details regarding clinical diagnosis. Thanks to this approach, it is possible to determine risk of recurrence and to formulate an antenatal strategy. These technologies have led to improved molecular definition and to a better understanding of the physiopathological mechanisms involved in different genodermatoses such as bullous epidermolysis, keratinisation disorders, pigmentation disorders, potentially tumoral conditions, and epidermal and pilar dysplasia. The large amount of information provided by high-throughput sequencing makes it possible to study modifying genes as well as genotype-phenotype correlations. However, this genetic information in its turn poses problems of interpretation and of control of the resulting data. The use of genetics in dermatology for the purposes of diagnosis or research requires a consultation to provide patients with information regarding the genetic tests involved and the potential consequences thereof for them and their families. Furthermore, with pangenomic approaches there is a higher probability of fortuitous discovery of abnormalities such as variants associated with risks predisposing to cancer or neurodegenerative disease. Collaboration between dermatologists and geneticists enables optimisation of patient management in terms of diagnosis and genetic counselling in the event of such rare diseases. Therapeutic applications are beginning to be developed. The scope of therapeutic application includes gene therapy, replacement therapy (enzyme therapy) and targeted therapy., (Copyright © 2019. Published by Elsevier Masson SAS.)

Introduction: Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently described, extremely rare, entity belonging to the spectrum of inherited poikilodermas. It is provoked by a mutation of the FAM111B gene. Respiratory involvement has never been fully described but usually involves a restrictive respiratory pattern. We present here a case of pulmonary fibrosis associated with POIKTMP and describe the clinical, functional, radiological and evolutionary characteristics., Observation: A 38 year-old patient with poikiloderma diagnosed in childhood was referred on account of dyspnoea. Initial evaluation showed a diffuse, fibrosing, interstitial pneumonitis with upper lobe predominance, associated with severe muscular involvement on imaging that remained sub-clinical during the evolution of the disease. Lung function impairment was severe and a rapid worsening of the pulmonary fibrosis and an acute exacerbation led to death after a follow-up of 21 months., Conclusion: This case illustrates the fibrosing pulmonary involvement associated with POIKTMP and confirms its extreme severity. It is found only in adults and is universally fatal after a variable time. It highlights the necessity for a systematic screening as soon as the diagnosis of POIKTMP is confirmed in order to establish specialised respiratory management., (Copyright © 2018. Published by Elsevier Masson SAS.)

Background: Nodular primary localized cutaneous amyloidosis (PLCA) is a rare subtype of localized cutaneous amyloidosis in which amyloid protein is derived from immunoglobulin light chains. Follow-up for progression to systemic amyloidosis or autoimmune disease is mandatory. No consensus exists regarding treatment., Patients and Methods: We report a case of nodular PLCA in a 49-year-old man, presenting as an asymptomatic nodule of the nose. Skin biopsy revealed diffuse deposition of amyloid associated with plasmocyte proliferation. Monotypic kappa light-chain restriction was observed. Extensive systemic evaluation, including bone marrow biopsy and PET scan, was negative. Protein electrophoresis and immunofixation in serum and urine were normal. The nodule was treated with radiotherapy but there was no response. Mohs micrographic surgery (MMS) was performed with no recurrence at 6 months of follow-up. No systemic progression was observed one year after the initial diagnosis., Discussion: Since nodular PLCA may have a cutaneous presentation similar to that of primary systemic amyloidosis, evaluation for systemic amyloidosis is necessary. Treatment of amyloidosis is difficult. Radiotherapy appears ineffective in treating this type of primary cutaneous amyloidosis, and surgical treatment, where possible, is a good option, especially with MMS, which allows both controlled excision and minimal margins., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background: Reactive perforating collagenosis (RPC) belongs to the group of perforating dermatoses, which comprises elastosis perforans serpiginosa, RPC, perforating folliculitis and Kyrle's disease. RPC was initially described as a distinctive form of transepithelial elimination of altered collagen related to superficial trauma. Two types are distinguished: a hereditary type (MIM 216700), which is rare and begins during early childhood, and a second type, called acquired RPC, which is more frequent, appears in adults and is associated with other diseases, diabetes mellitus, renal insufficiency, solid tumors, lymphomas and AIDS. We report the case of a young man whose illness began during infancy, militating in favor of a diagnosis of a hereditary form of RPC. The description of similar lesions in the patient's brother confirmed our diagnosis., Patients and Methods: A 26-year-old man, the child of consanguinous parents, presented crusted papular lesions on his hands. The cutaneous lesions, located on the external side of the limbs, had been present since childhood, with flares during winter. Histologic analysis showed a cup-shaped depression in the epidermis containing keratinous material with extruded degenerated collagen towards the cutaneous surface. Treatment with topic retinoids did not result in any real resolution of the disease. The patient reported the presence of similar lesions in his brother, which was consistent with our diagnosis., Discussion: The pathogenesis of hereditary RPC is still unknown, even if superficial trauma is suspected as the cause of RPC. In contrast, in diabetes, acquired RPC pathogenesis has recently been related to advanced glycation end-products of collagen., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

The literature review for 2009 covers the principal themes of the speciality and brings new findings in the fields of pathophysiology, clinical features, therapeutical approaches. With regards to atopic dermatitis, we noticed new studies on potential inducing factors (breastfeeding, probiotics, food, vitamins, prematurity, Staphylococcus aureus and constipation). There are also new data on therapy using tacrolimus. With regards to vascular anomalies and especially haemangiomas, the literature comprises new data on evolution and efficacy of propranolol. With regards to congenital nevi, there are studies related to treatment and complications. With regards to warts, the literature brings news about virus transmission and therapy. With regards to genodermatosis (neurofibromatosis type I, cutis laxa, pseudoxanthoma elasticum, epidermolysis bullosa, ichtyoses and pilar diseases), we found novel facts in the fields of molecular analysis, clinical aspects, pathophysiology and quality of life. The literature in 2009 also contains studies on Lyell syndrome, Kawasaki disease, vitiligo, psoriasis, pityriasis rubra pilaris, urticaria and alopecia areata., (Copyright 2009 Elsevier Masson SAS. All rights reserved.)

Introduction: Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with many systemic manifestations. We report 5 cases., Observations: The first patient presented cutaneous (yellowish grouped papules with reticulate pigmentation) and ocular manifestations (angioid streaks). The second patient is the sister of the first and presented the same clinical signs. The third is the mother of the two previous patients. The diagnosis of PXE was made on using a skin biopsy of healthy skin during family screening. The fourth patient presented yellow grouped papules with cutaneous hyper-elasticity and angioid streaks. The fifth patient presented essentially cardiovascular symptoms: arterial hypertension, total aortal dilation, arteriopathy and a cerebral vascular accident., Discussion: Cutaneous manifestations are frequent (70 to 85%). Ocular signs are associated with the cutaneous signs in around 90% of PXE. The vascular lesions condition the vital prognosis. The gold standard of diagnosis is skin biopsy taken from damaged skin but it can also be positive even in normal skin (cases 3 and 5). Our series is characterised by the existence of unusual clinic manifestations of PXE: reticulated pigmentation and total aortal dilation., Conclusion: The PXE is a rare metabolic disease whose diagnosis is classically histopathological. Nowadays, molecular diagnosis is also possible.

Background: Schöpf-Schulz-Passarge's syndrome is a rare autosomal recessive genodermatosis associating hypodontia, palmoplantar keratoderma, cysts of the eyelid margins, onychodysplasia and hypotrichosis. We report two new cases., Case Report: Case no. 1: A 49 year-old woman complained of erosive and fissured palmoplantar keratoderma. Nails were fragile and dystrophic. Permanent teeth were absent. She also had many small cysts of the eyelid margins and a middle hypotrichosis. There was no consanguinity between her parents. Case no. 2: A 56 year-old man was seen for red, scaly and well marked palmoplantar keratoderma. Permanent teeth were absent. He had a hair loss since the age of 30. Nails were hypoplastic and there were many small cysts of the eyelids. Biopsy of one of the cysts showed a follicular cyst associated with sweat duct dystrophy. Schöpf-Schulz-Passarge's syndrome was diagnosed in these 2 patients. There was no evidence of associated cutaneous tumors., Discussion: Differential diagnosis of Schöpf-Schulz-Passarge syndrome include other genodermatoses comprising palmoplantar keratoderma and dental abnormalities. Benign or malignant tumors are frequently associated: eccrine poromas, eccrine syringofibroadenomas, follicular tumors, basal cell and squamous cell carcinomas. Tumors usually appear after the age of 60. Regular follow-up and biopsy of the suspect lesions are necessary.

Background: Universalis dyschromatosis is a rare genodermatosis. Melanogenesis dysfunction appears to be the main etiology. We report two cases, discussing the clinical features, diagnosis and etiology of this disease., Case Reports: A 21-year-old man was referred for a mixture of achromatic and hyperchromatic lesions that had progressed on sun-exposed skin areas since birth. The histopathologic study evidenced increased melanin content in the basal cell zone but no changes in the aspect or the number of melanocytes. The second case was a 20-year-old man who presented the same clinical features. His brother also had these lesions. A scotch test and a Wood light test were negative., Discussion: Universalis dyschromatosis is a generalized leukomelanoderma. The familial nature of the disease in our second case points out the genetic component. Recent ultrastructure studies have demonstrated the melanogenesis dysfunction involved. The location of the lesions on sun exposed areas points out to the role of ultraviolet light. In Tunisia, Xeroderma pigmentosum is the main differential diagnosis of universalis dyschromatosis.

Background: Muckle-Wells syndrome is a hereditary condition with variable penetrance. The main manifestations are urticarial rash, malaise in the evening, joint pain, perception deafness and renal amylosis., Case Report: We describe a family with 4 affected members in 3 successive generations. Clinical expression was variable., Discussion: Despite the absence of renal amylosis in our patients, this family presented the syndrome described by Muckle and Wells in 1962. As for other cases reported in the literature, the clinical course was favorable with low-dose corticosteroid therapy.