Blaschko-linear lichen planus of the face: A retrospective study of 6 cases and a literature review.

INTRODUCTION AND METHODS: Different clinical and histological variants of lichen planus (LP) exist, such as lichen planopilaris, pigmentosus, linear, or atrophic LP. Recently, some cases came to our attention of hyperpigmented and atrophic linear lesions of the face with lichenoid histology, suggesting a combination of these different variants. We carried out a single-center, retrospective descriptive study of 6 similar cases selected from our database and compared them with a literature review. RESULTS: There were 4 males and 2 females of mean age 42 years. Each had linear lesions located on one side of the face. All lesions were initially itchy; they appeared hyperpigmented in all patients and atrophic in 5 cases. Biopsies indicated lichen planopilaris in 5 patients, with deep peri-eccrine involvement in 4 of them. Only 2 of the 6 patients had extra-facial lesions. DISCUSSION AND LITERATURE REVIEW: We found 24 cases in the literature having similar clinical and histological aspects. Men aged around 37 years seemed particularly affected. An atrophic course was noticed in 10 patients. Such a clinicopathological picture may suggest differential diagnoses like lichen striatus, lupus erythematosus, lichen sclerosus atrophicus, or Moulin's linear atrophoderma. Early histopathological examination could be of precious assistance in allowing the initiation of effective treatment immediately as of the initial inflammatory phase, thereby limiting the risk of cosmetic sequelae such as atrophy or residual pigmentation. CONCLUSION: We describe a form of facial lichen planus that is highly particular in terms of its follicular tropism, its blaschkoid distribution, its pigmented character, and its atrophic progression.

Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.

BACKGROUND: Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of hereditary epidermolysis bullosa, with a poorly understood pathogenesis and no satisfactory treatment. OBJECTIVES: To assess the clinical and biological features, genetic basis and therapeutic management, to better characterize this rare genodermatosis. METHODS: We have conducted a retrospective study, reviewing the clinical presentation, genetic diagnosis, immunohistopathological findings and biological characteristics and management of patients with dystrophic epidermolysis bullosa pruriginosa. This study was conducted in the Department of Dermatology at Saint-Louis Hospital and the Department of Genetics at Necker Hospital (Paris, France). All patients with a diagnosis of DEB-Pr seen between 2010 and 2020 were included. RESULTS: Seven patients were included, the average age of 50.1 years [range 36-76]. Pruriginous-lichenified papules, plaques or nodules appeared at 27.6 years on average [range 7-66] on pretibial areas and forearms, associated with milia and toenails dystrophy. All patients received multiple treatments, but none could sustainably reduce pruritus. Immunohistopathological analysis of lesion skin revealed subepidermal blister with fibrosis, milia and mast cell infiltration. Serum TNFα, IL1ß and IL6 levels were elevated in 2/6 patients. Total serum IgE levels were increased in 7/7 patients, with no history of atopy. Immunophenotyping of circulating T-cells revealed an increased Th2 subset in 4/4 patients, with reduced Th1 and Th17 subpopulations. Genetic analysis of COL7A1 identified 7 distinct causative mutations, six of which were new. Intra-familial clinical variability was documented in 5/7 patients and was associated with the co-inheritance of a recessive COL7A1 mutation or an FLG2 mutation in 2 families. CONCLUSION: Our study confirms the stereotyped presentation of DEB-Pr with large intra-familial variability in disease expression. Mast cell infiltration, elevated IgE and increased Th2 subset without atopy strongly support a role of Th2-mediated immunity in DEB-Pr, and further argue for new targeted therapeutic options such as dupilumab.

[Cutaneous plasmacytosis with Darier's sign in a woman of European origin]. / Plasmocytose cutanée avec signe de Darier chez une femme d'ascendance européenne.

INTRODUCTION: Cutaneous plasmacytosis is a rare skin condition first described in 1976 and it is seen mainly in patients of Asian descent. Patients usually present with multiple reddish-brown macules and nodules chiefly on the trunk and face, with clusters of well-differentiated plasma cells in the dermis. The aetiopathogenesis and nosological features of this entity remain obscure. We report herein a case of cutaneous plasmacytosis in a European middle-aged woman with presence of Darier's sign. PATIENTS AND METHODS: A 56-year-old woman of European descent presented with asymptomatic hyperpigmented patches affecting the dorsal aspect of her trunk for at least two years. Darier's sign was present in some episodes. Cutaneous biopsy showed a moderately dense interstitial and perivascular infiltrate containing numerous well-differentiated mature plasma cells affecting the entire dermal surface. Kappa and lambda immunochemistry demonstrated polyclonal plasma cell infiltrates with absence of light-chain restriction. Immunohistochemical examination was negative for HHV-8 and Treponema pallidum spirochetes. Laboratory findings revealed hypergammaglobulinaemia with no monoclonal bands being detected on immunofixation. A diagnosis of cutaneous plasmacytosis was made. In the absence of systemic involvement initial management consisted of clinical surveillance. DISCUSSION: The characteristic clinico-pathological features of CP allowed diagnosis of this skin condition in our patient, although it is very rarely reported in patients of European descent. The main differential diagnoses were ruled out, namely plasmacytic infiltrates related to infections and marginal B-cell lymphoma.

[Cutaneous tuberculosis of the ear due to Mycobacterium bovis]. / Tuberculose cutanée de l'oreille à Mycobacterium bovis.

INTRODUCTION: Isolated cutaneous tuberculosis is uncommon, accounting for only 0.14 to 5% of Mycobacterium tuberculosis infections. We report a rare case of ear cutaneous tuberculosis due to Mycobacterium bovis in an immunocompetent woman. CASE REPORT: A 59-year-old woman presented an erythematous and scaly lesion of the ear present for two years. The histological findings were compatible with a diagnosis of sarcoidosis, with non-necrotic granuloma. After failure of dermal corticosteroid therapy, a further biopsy identified M. bovis; the patient was cured following anti-tubercular treatment. DISCUSSION: Ear lesions are predominantly associated with tumors, fungal infections, chondritis, lupus and sarcoidosis. The ear, like the face in general, is a classic localization of lupus vulgaris, a chronic form of confined tuberculosis infection with progressive evolution. The paucibacillary nature of these lesions is the reason why their diagnosis is based in some cases on clinical, histological and immunological findings without bacteriological evidence. However, given the potential therapeutic implications, it is important to push the microbiological analysis as far as possible. In our case, culture and identification provided evidence of M. bovis infection, enabling suitable and effective therapy to be given.

Diffuse dermal angiomatosis associated with severe atherosclerosis: two cases and review of the literature.

Diffuse dermal angiomatosis (DDA) is a rare condition characterized by endothelial proliferation in the reticular dermis. Several diseases have been associated with DDA, including peripheral arterial disease (PAD). We report two cases of DDA associated with PAD. Patient 1 was a 71-year-old woman, who presented with painful necrotic ulcerations on her trunk and a medical history of PAD. Skin biopsy revealed a dermal proliferation of endothelial cells, and despite medical treatment, she died 1 month later. Patient 2 was an 81-year-old man, who presented with an erythematous, bluish plaque of the shoulder. He was a heavy smoker, with severe PAD. Biopsy showed dermal capillary hyperplasia, with a few fibrin thrombi, and follow-up only was recommended. In both cases, laboratory tests and Doppler ultrasonography ruled out other thrombotic conditions and vascularitis. DDA is a rare complication of PAD, and the optimum medical treatment remains to be clarified, especially when revascularization has failed or is not possible, as in our cases.

Clinical efficacy of intravenous immunoglobulins for the treatment of dermatomyositis skin lesions without muscle disease.

BACKGROUND: Treating dermatomyositis (DM) with isolated skin involvement is difficult and inconsistently performed. Intravenous immunoglobulins (IVIg) are recommended for corticoresistant or corticodependant DM, but only a few cases of IVIg use in DM with isolated skin involvement have been reported. DESIGN: We performed a retrospective monocentric study of 27 patients who were treated with IVIg for severe DM skin lesions (no or minor muscle involvement) after failure of photoprotection and at least one line of treatment. RESULTS: Nineteen patients (70%) exhibited a major response, four patients exhibited a partial response and four patients exhibited no response, including two patients with grade 3 side effects (headaches). The mean number of IVIg courses was 4.8 (range 1-15). Ten patients (53%) relapsed, with a median time of 6.2 months after the last IVIg course. Six of these patients were successfully treated with a new IVIg course. Muscle disease developed in six patients. CONCLUSION: IVIg may be an effective and safe treatment for DM with isolated skin involvement. Relapse occurred frequently, but treatment with a new course of IVIg was successful. Controlled studies are required to confirm these results.

[Sclerodermatous changes in porphyria cutanea tarda: six cases]. / Lésions sclérodermiformes dans la porphyrie cutanée tardive : six observations.

BACKGROUND: The clinical features of porphyria cutanea tarda (PCT) are usually distinctive and include blistering on sun-exposed areas, fragile skin, hypertrichosis and hyperpigmentation. Sclerodermatous changes are much less common, and may either reveal PCT or else appear later. We carried out a retrospective study of the files of six female patients presenting such lesions. PATIENTS AND METHODS: Six women (age: 45 to 72 years) were referred for sclerodermatous lesions on sun-exposed areas of the upper body. In four patients, these lesions revealed PCT and in the remaining two patients they were indicative of previously treated but relapsing PCT. Four had sclerodermatous skin changes mimicking morphea of the neck and neckline, the top of the back and the face, while one presented more diffuse facial and cervical sclerosis. Associated alopecia was seen in three patients. The last patient presented isolated sclerodermiform alopecia. Associated malar hypertrichosis was seen in five cases and facial hyperpigmentation was noted in three cases. Four exhibited no blisters, cutaneous fragility, milia or photosensitivity. Histological findings were consistent with morphea or scleroderma in all cases. All patients presented abnormal liver tests: cirrhosis was present in four cases (primitive biliary cirrhosis, alcoholic cirrhosis and hepatitis C) and fatty liver in two cases. In four cases, there was excessive alcohol intake. Uroporphyrin levels were above the normal range in all cases. Local corticosteroid therapy associated with phlebotomy and/or low-dose hydroxychloroquine resulted in complete normalisation of porphyrin levels in four patients, with complete resolution of the cutaneous lesions in two patients and partial improvement in the other two. DISCUSSION: Sclerodermatous changes are uncommon in PCT. They are not always late and secondary to the process of healing of blisters but can in fact constitute the first cutaneous symptom of the disease while revealing the underlying liver disease. Even in the absence of blisters, photosensitivity or cutaneous fragility, a diagnosis of PCT must be suspected in a setting of sclerodermatous changes distributed on the neck and face, or the neckline, or scarring alopecia, if associated with abnormal liver tests. Skin biopsy to confirm the diagnosis of scleroderma may delay the diagnosis, which is in fact based on porphyrin level. Normalization of the latter parameter under treatment allows regression of lesions.

Travelers with cutaneous leishmaniasis cured without systemic therapy.

BACKGROUND: Cutaneous leishmaniasis (CL) is a disfiguring but not life-threatening disease. Because antileishmanial drugs are potentially toxic, the World Health Organization (WHO) recommends simple wound care or local therapy as first-line treatment, followed or replaced by systemic therapy if local therapy fails or cannot be performed. METHODS: To determine the feasibility and impact of the recommended approach, we analyzed the results of a centralized referral treatment program in 135 patients with parasitologically proven CL. RESULTS: Infections involved 10 Leishmania species and were contracted in 29 different countries. Eighty-four of 135 patients (62%) were initially treated without systemic therapy. Of 109 patients with evaluable charts, 23 of 25 (92%) treated with simple wound care and 37 of 47 (79%) treated with local antileishmanial therapy were cured by days 42-60. In 37 patients with large or complex lesions, or preexisting morbidities, or who had not been cured with local therapy, the cure rate with systemic antileishmanial agents was 60%. Systemic adverse events were observed in 15 patients, all receiving systemic therapy. CONCLUSIONS: In this population of CL patients displaying variable degrees of complexity and severity, almost two-thirds of patients could be initially managed without systemic therapy. Of these, 60 were cured before day 60. The WHO-recommended stepwise approach favoring initial local therapy therefore resulted in at least 44% of all patients being cured without exposure to the risk of systemic adverse events. Efforts are needed to further simplify local therapy of CL and to improve the management of patients with complex lesions and/or preexisting comorbidities.

[Cutaneous revelation of Rosai-Dorfman disease: 7 cases]. / Maladie de Rosai-Dorfman à révélation cutanée: 7 observations.

BACKGROUND: Rosai-Dorfman disease (RDD) is a benign form of non-Langerhans-cell histiocytosis. It is identified by a particular histological profile first observed in febrile lymph nodes. Extranodal sites are frequent. The most common site is the skin, which can reveal the disease despite a difficult and delayed diagnosis. Seven cases of cutaneous revelation of RDD were studied retrospectively in order to delineate the clinical characteristics and facilitate diagnosis and treatment of this extremely rare disease. PATIENTS AND METHODS: Six cases of RDD from 1990 to 2011 were identified in the photographic and histopathological records of the Saint-Louis Hospital and one case came from a Bichat Hospital consultation. The diagnosis was based in all cases on histopathology results. RESULTS: Patients consisted of four men and three women aged between 31 and 69 years. Cutaneous lesions (3 to 20) revealed the disease in all of them and the time from disease onset to diagnosis ranged from six months to five years. The clinical presentation was erythematous or orange popular nodules or plaques, usually on the face. Microscopically, a dense dermal infiltration was observed, in some cases extending into the subcutaneous tissue, with pale histiocytic cells characterised by emperipolesis, plasma cells, lymphocytes, some neutrophils and variable fibrosis. The diagnosis, initially erroneous in 4 cases, was rectified by a second reading of histopathology slides, and immunohistochemical studies showed expression of S-100 protein in histiocytes but not CD1a. Three patients had pure cutaneous RDD. Two neurological sites and one nasal site were also found, with one ENT site and sequelae of previous uveitis in one patient. All extra-cutaneous sites were identified by clinical examination. Different treatments were proposed according to the sites and impact of the disease. In one case, the lesions regressed spontaneously after 18 months. COMMENTS: Few RDD series have been published and they mainly concern Asian patients. The ethnic origin of our patients was varied. The main findings were: 1) common clinical findings (orange or erythematous papules or nodules, mostly on the upper body), which should alert the dermatologist and histopathologist to the possible diagnosis of RRD; 2) the possibility, already mentioned in the literature, of spontaneous regression and a good prognosis; 3) the need for thorough evaluation by thoracic, abdominal and cerebral CT (computed tomography) or more a PET (positron emission tomography) scan to screen for potentially dangerous visceral sites, and also clinical follow up.

[Cutaneous manifestations revealing cryofibrinogenaemia associated with monoclonal gammopathy]. / Manifestations cutanées révélant une cryofibrinogénémie associée à une gammapathie monoclonale.

BACKGROUND: Cryofibrinogenaemia is an under-recognized cutaneous thrombotic vasculopathy that may be revealed by purpura or chronic necrotic ulcerations. We report two original cases characterized by their severity, their association with a monoclonal gammopathy and their excellent response to treatment. PATIENTS: A 38-year-old woman was admitted for large necrotic leg ulcers appearing 1 year earlier and already investigated. Non-specific signs were seen on a previous skin biopsy and the diagnosis of a factitious disorder was considered at that time. Further investigations revealed circulating cryofibrinogen associated with IgG kappa monoclonal gammopathy without cryoglobulinaemia. Plasmapheresis followed by bortezomid-dexamethasone to treat the monoclonal gammopathy resulted in rapid and complete healing of the ulcers, militating in favour of its involvement in cryofibrinogen formation. The second patient, a 91-year-old woman, was referred to our department for acute necrotic purpura of the legs. Skin biopsy revealed leukocytoclastic vasculitis. Glomerular nephropathy with acute renal failure and multiple arterial thromboses were associated with the skin condition. The cryofibrinogen assay was positive without cryoglobulinaemia and other causes of vasculitis were ruled out. The main component was monoclonal IgG lambda. Prednisone-cyclophosphamide treatment led to complete healing of the skin lesions and to recovery from the systemic consequences of cryofibrinogen without sequelae. CONCLUSION: Routine screening for cryofibrinogen in plasma should be performed to explore cutaneous symptoms of unexplained thrombotic vasculopathy, even in the presence of a non-specific skin biopsy. Specific treatment of cryofibrinogenaemia associated monoclonal gammopathy appears to be highly effective against manifestations of cryofibrinogenaemia.

[Cutaneous and epidural Rosai-Dorfman disease]. / Localisation cutanée et épidurale d'une histiocytose de Rosai-Dorfman.

BACKGROUND: Rosai-Dorfman disease, or sinus histiocytosis with massive lymphadenopathy, is a rare benign histiocytic proliferative lymph node disorder. Whereas the association of nodal and extranodal involvement is common, purely extranodal diseases are rare. CASE-REPORT: We report the case of a thirty-year-old man with papulonodular skin lesions of the face and the legs initially followed by onset of hyposensitivity of the lower extremities. Histologic examination of a facial lesion showed a dermal polymorphous infiltrate, chiefly composed of large histiocytes, some of which contained intracytoplasmic lymphocytes and neutrophils, a process referred to as emperipolesis. Immunohistochemistry revealed positive staining of the histiocytes with anti-S100 protein and anti-CD68 antibodies and negative staining with anti-CD1a antibody. Magnetic resonance showed spinal cord compression linked to epidural involvement. We concluded on cutaneous and epidural Rosai-Dorfman disease. Neurological symptoms rapidly and partially resolved after intravenous corticosteroid therapy, which was followed by oral corticosteroid therapy and etoposide chemotherapy leading to the regression of the cutaneous lesions. DISCUSSION: This case report of cutaneous and epidural Rosai-Dorfman disease is interesting because of the lack of lymph node involvement associated with the cutaneous lesions and because of the presence of an epidural site, rarely described in this disease.

[Discoid lupus erythematosus involving the eyelids: 4 cases]. / Blépharites du lupus érythémateux chronique. Quatre cas.

BACKGROUND: Discoid lupus erythematosus is a chronic skin disease frequently involving the face, scalp and ears. Palpebral lesions are rare. We report 4 cases of this uncommon localization. In one case, palpebral lesions were the sole manifestation of the discoid lupus erythematosus. CASE REPORTS: Four patients aged between 26 and 45 Years had lesions of the lower eyelid as erythematous, infiltrated and scaly plaques. One patient, without diagnosis despite 2 skin biopsies of lesion, presented with a 2-Year history of blepharitis in the absence of any other cutaneous abnormality. In one case, chronic blepharitis has been present for 4 Years and associated with inflammatory arthralgia. Alopecia occurred 4 Years after the onset of blepharitis and led to the diagnosis of discoid lupus erythematosus. In 2 cases, blepharitis was associated with typical cutaneous lesions of discoid lupus erythematosus. Antimalaria drugs were very effective in 3 cases. In one patient the antimalaria drug failed, but thalidomide was effective. DISCUSSION: The location of lesions on the eyelids in the absence of any other cutaneous abnormality is rare and can easily lead to the misdiagnosis of discoid lupus erythematosus. Most Authors mention a predilection of the lesions to the inferior portion of the eyelid, more specifically to the external third. The involvement of the eyelids with permanent scarring and severe eye impairment is explained by the long duration of the disease without diagnostic and appropriate treatment. Clinical examination is highly consistent with discoid lupus erythematosus: the lesions typically present as well-circumscribed, erythematous plaques with telangiectasia and scales and atrophy in long-standing disease. Antimalaria drugs are remarkably effective.