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Introduction Dans l’essai de phase 2 evaluant le cemiplimab (CEM) chez des patients (pts) ayant un carcinome epidermoide cutane (CEC) localement evolue ou metastatique, le taux de meilleure reponse (TMR) etait de 47 % et la survie globale (SG) a un an de 81 %. Une autorisation temporaire d’utilisation (ATU) nominative a permis a ces pts d’acceder au CEM hors protocole. Notre objectif etait d’analyser les donnees d’efficacite et de tolerance de cette ATU. Materiel et methodes Les 58 centres ayant inclus des pts entre le 08/18 et le 10/19 dans cette etude retrospective ont ete sollicites pour completer une fiche standardisee par pt. L’objectif principal etait le TMR, les objectifs secondaires etaient la survie sans progression (SSP), la SG, la duree de la reponse (DDR) et la tolerance. La reponse etait evaluee dans les centres. Les effets indesirables (EI) etaient evalues selon la classification CTCAEv5. La SSP, la SG et la DDR ont ete calculees par la methode de Kaplan–Meier. La date de point etait le 19/06/20. Resultats Les cas de 245 pts (178H/67F, âge moyen 77,1 ± 13) ont ete analyses. Il y avait 189 pts inclus dans l’ATU nominative et 56 dans celle de cohorte ; 59 % des pts avaient deja recu une radiotherapie et 52 % des pts ont recu le CEM en 1re ligne de traitement systemique ; 68 % des CEC etaient localises a la tete et au cou. Ils etaient localement evolues (35 %), regionaux (39 %) ou metastatiques a distance (26 %) ; 24 % des pts etaient immunodeprimes : hemopathies, 15 % ; VIH, 3 % ; transplantes, 3 % ; immunosuppresseurs, 2 %, autre, 1 % ; 3 % avaient une genodermatose et 12 % une dermatose chronique. Un neurotropisme etait present dans 23 % des CEC. Le PS etait ≥ 2 chez 28 % des pts. Le nombre moyen de perfusions de CEM etait de 10 (4–22). Parmi les 240 pts ayant recu ≥ 1 perfusion, le TMR (IC 95 %) etait de 50,4 % (43,9–56,9) avec 51 RC (21 %) et 70 RP (29 %). Le suivi median etait de 12,6 mois. La SSP mediane (IC95 %) etait de 8,2 mois (6,7–11,7). Les medianes de SG/DDR n’etaient pas atteintes ; la SG (IC95 %) a 1 an etait de 63,1 % (56,8–70,1). La duree mediane de traitement etait de 5,5 mois et 29 % des pts etaient encore traites a un an. Des EI survenaient chez 75 pts (31 %) ; les plus frequents (> 2,5 %) etaient asthenie, diarrhees, cholestase et prurit ; 22 pts (9 %) ont presente ≥ 1 EI de grade 3–4. Un pt est decede d’un syndrome de Lyell lie au CEM et 16 pts (7 %) ont arrete le CEM du fait d’un EI. Discussion Ces premieres donnees d’etude en vie reelle permettent de caracteriser les pts susceptibles d’etre traites par CEM. Ils incluent une frequence elevee (15 %) de pts atteints d’hemopathies. Elles confirment le taux de reponse eleve du CEM ainsi que sa bonne tolerance. L’inclusion dans cette etude d’une proportion importante de pts immunodeprimes et de pts au PS altere, habituellement non inclus dans les essais, a pu contribuer a une SG a un an plus faible que dans l’essai de phase 2.

BACKGROUND Psychiatric disorders have been extensively documented in patients with systemic lupus erythematosus (SLE). However, the prevalence of psychiatric disorders in patients with skin-restricted lupus (SRL) remains unknown, although SRL is more common than SLE. OBJECTIVES To assess current and lifetime prevalence of Axis I psychiatric disorders among outpatients with SRL and to examine the factors associated with psychiatric disorders among such patients. METHODS A multicentre case-control study involving outpatients with SRL and controls matched for sex, age and education level. The Mini International Neuropsychiatric Interview was used for psychiatric evaluation. RESULTS We evaluated 75 patients and 150 controls. Of these, 49% of patients vs. 13% of controls fulfilled the criteria for at least one current psychiatric disorder (P < 0·001). The following disorders were significantly more frequent among patients than controls: current and lifetime major depressive disorder (9% vs. 0%, P < 0·001 and 44% vs. 26%, P = 0·01), generalized anxiety disorder (23% vs. 3%, P < 0·001 and 35% vs. 19%, P = 0·03), panic disorder (7% vs. 0%, P = 0·004 and 21% vs. 3%, P < 0·001), current suicide risk (24% vs. 7%, P = 0·003), alcohol dependence (7% vs. 0%, P = 0·004) and lifetime agoraphobia (20% vs. 9%, P = 0·01). Lupus duration and lupus past treatment by thalidomide were significantly higher among patients with current psychiatric disorders. CONCLUSIONS This study demonstrates a high prevalence of several psychiatric disorders (anxiety, depression, suicide risk, alcohol dependence) in patients with SRL.

Resume Introduction Les metastases en transit sont frequentes lors de l’evolution d’un melanome cutane primitif. Exceptionnellement, elles sont distribuees sur un territoire radiculaire et sont alors appelees « metastases zosteriformes ». Observation Nous rapportons le cas d’un patient presentant des metastases cutanees zosteriformes de melanome, evoluant de facon pejorative malgre une exerese chirurgicale et un traitement par immunotherapie. Discussion Le mecanisme physiopathologique de la dissemination metamerique reste inconnu a ce jour.

Cutaneous metastases are common in patients with malignant melanoma. In rare cases, they are distributed on a dermatome, in which case they are known as zosteriform metastases.We report the case of a patient with zosteriform metastasis of a malignant melanoma, progressing unfavourably despite surgical excision and immunotherapy.The physiopathology of this condition continues to be poorly understood.

Resume Introduction Le traitement des condylomes acumines (CA) de l’enfant et du nourrisson fait souvent appel a des techniques destructrices douloureuses, difficiles a mettre en place et pouvant necessiter une anesthesie generale. L’imiquimod en application locale a un rapport efficacite/tolerance favorable dans cette indication chez l’adulte. Nous rapportons un cas d’utilisation de ce traitement chez le nourrisson. Observation Un garcon de dix mois presentait depuis deux mois des CA inguinaux et perianaux florides resistant a la podophyllotoxine. Apres un mois de traitement quotidien par imiquimod, la guerison etait complete. Six mois plus tard, aucune recidive n’etait notee. Discussion Nous avons pu trouver dans la litterature quatre cas similaires d’efficacite et de bonne tolerance de l’imiquimod applique pour traiter des CA chez le nourrisson. En depit de l’absence d’autorisation de mise sur le marche (AMM) dans cette indication, ces observations demontrent l’interet potentiel de l’imiquimod topique dans le traitement des CA du nourrisson.

Resume Introduction L’epidermolyse bulleuse acquise (EBA) est une maladie auto-immune rare de la jonction dermoepidermique, potentiellement grave, souvent recalcitrante aux traitements conventionnels classiques et souvent corticoresistante. Nous rapportons un nouveau cas de succes du traitement par rituximab (anticorps anti-CD20) dans cette affection, avec un recul d’un an sans rechute. Observation Un homme de 76 ans se presentait avec des lesions bulleuses cutaneomuqueuses, des cicatrices atrophiques et des grains de milium sur les zones de frottement. Il etait traite par dermocorticoides, dapsone, tacrolimus topique, corticotherapie generale, mycophenolate mofetil, doxycycline et methotrexate sans resultat. Quatre perfusions hebdomadaires de rituximab (375 mg/m 2 de surface corporelle) associees a des corticoides systemiques amelioraient l’etat cutaneomuqueux des la troisieme semaine de traitement, sans apparition de nouvelles bulles durant les sept mois suivants. Avec un an de recul, l’etat etait stable sous seulement 5 mg/j de prednisone. Discussion Il s’agit de la huitieme observation rapportee de traitement d’EBA par rituximab, la sixieme avec succes, permettant en quelques mois une epargne cortisonique certaine, une amelioration incontestable de la qualite de vie et une tres bonne tolerance avec 12 mois de recul. Ce traitement peut etre propose rapidement en cas d’EBA recalcitrante aux traitements conventionnels. Un observatoire est cependant necessaire pour en etudier les effets secondaires potentiels.

Resume Introduction La sclerodermie systemique diffuse (SSD) est une maladie auto-immune le plus souvent endogene, mais qui peut etre induite par des substances exogenes d’origine professionnelle. Nous en rapportons une observation qui illustre ce phenomene. Observation Le diagnostic de SSD etait pose chez un homme de 54 ans initialement adresse pour ulceres des membres inferieurs. L’interrogatoire mettait en evidence une exposition professionnelle aux solvants hydrogenes : trichlorethylene (TCE) et perchlorethylene (PCE). L’evolution etait rapidement fatale, avec degradation de la fonction cardiaque et arret cardiaque vraisemblablement imputables a la sclerodermie. Discussion Nous suggerons une prevention et un depistage plus systematiques de la SSD en cas d’exposition au TCE/PCE.

Mid-dermal elastolysis (MDE) is a rare acquired disease of elastic tissue histologically characterized by focal loss of elastic fibres within the mid-dermis. While the mechanisms leading to MDE remain unknown, increased degradation of elastic fibres may be involved. Many factors potentially triggering such degradation have been suggested.A 58-year-old man consulted for an asymptomatic reticulated eruption that began in the area of a pacemaker implanted six weeks earlier. The eruption consisted of erythematous polycyclic and coalescing macules with a wrinkled centre. Histopathology with orcein staining revealed focal loss of elastic fibres in the superficial reticular dermis only. Hypersensitivity reaction to any components of the pacemaker was ruled out by means of allergy exploration. Laboratory investigations including autoimmunological and haematological factors were unremarkable. A diagnosis was made of a reticular variant of MDE following insertion of a pacemaker.We report the second case of MDE following the insertion of a pacemaker, which could have triggered an inflammatory response directed specifically towards the elastic fibres.

Brush border myosin-I is a class I myosin with calmodulin light chains that has been identified in several vertebrate species. In chicken, it is exclusively expressed in intestinal epithelial cells where it forms spirally arrayed bridges that tether the microvillar actin bundle to the membrane. To facilitate future knockout strategies, we have isolated mouse brush border myosin-I cDNA and genomic clones. The deduced primary structure of mouse brush border myosin-I is homologous to other known brush border myosins-I. Northern blot, immunoblot, and immunolocalization studies indicate that the intestine-specific and subcellular localization profile of mouse brush border myosin-I are comparable to that determined for other brush border myosins-I. Northern analysis during embryogenesis revealed a 3.9-kb transcript first detected in 15-day embryos. This is in marked contrast to chicken, where brush border myosin-I expression begins early in embryogenesis. In situ localization in 17-day embryos indicated that RNA expression is restricted to the intestine. Protein expression is first detected in 16-day embryos with decreasing levels observed in a proximal to distal fashion. Immunolocalization in embryonic intestine revealed that brush border myosin-I is evenly distributed on both apical and basolateral membrane domains. There is also pronounced localization to a supranuclear region, presumably the Golgi apparatus. This suggests that brush border myosin-I may be targeted to the plasma membrane on Golgi-derived vesicles rather than by direct targeting to microvillar actin cores.

The human intestinal cell line, Caco-2BBe, has been established as an excellent model system for analysis of the enterocyte cytoskeleton including that of the actin rich apical brush border. To facilitate its use for functional analysis of a major component of the brush border, brush border myosin-I, human cDNAs encoding the heavy chain of this class I myosin were isolated and sequenced. The identity of this myosin as human brush border myosin-I was verified based on similarity with other vertebrate sequences, as well as its expression profile at both the RNA and protein levels. Localization of the protein in human intestine along the crypt-villus axis closely resembles that previously determined for brush border myosin-I in chicken, and is quite distinct from that of myosin-Ic, another myosin-I expressed in human intestine and Caco-2BBe cells. In immature cells of the crypt, brush border myosin-I staining is low, and there is significant cytosolic and basolateral localization, while villus cells stain much more intensely, and the protein is primarily localized to the brush border. Localization of myosin-Ic is essentially the inverse of brush border myosin-I in that crypt cells exhibit higher levels of staining, while villus cells have very low levels of myosin-Ic. The expression of both myosins-I was also examined during cell-contact induced differentiation of Caco-2BBe cells where expression and changes in localization closely resemble those that accompany differentiation of enterocyte in vivo. Cell Motil. Cytoskeleton 41:308–324, 1998. © 1998 Wiley-Liss, Inc.

Summary Background Some prognostic markers of venous leg ulcer (VLU) healing have been evaluated, mostly in retrospective studies. Objectives To identify which clinical characteristics, among those known as possible prognostic factors of VLU healing, and which VLU-associated sociodemographic and psychological factors, are associated with complete healing at week 24 (W24). Methods A prospective, multicentre, cohort study was conducted in 22 French dermatology departments between September 2003 and December 2007. The end point was comparison between healed and nonhealed VLUs at W24, for patient clinical and biological characteristics; psychological, cognitive and social assessments; affected leg inclusion characteristics; venous insufficiency treatment and percentage of initial wound area reduction during follow-up. Results In total, 104 VLUs in 104 patients were included; 94 were analysed. The mean VLU area and duration were 36·8 ± 55·5 cm2 and 24·8 ± 45·7 months, respectively. At W24, 41/94 VLUs were healed. Univariate analysis significantly associated complete healing with superficial venous surgery (P = 0·001), adherence to compression therapy at W4 (P = 0·03) and W24 (P = 0·01), ankle-joint ankylosis (P = 0·01) and mean percentage of VLU area reduction at W4 (P = 0·04). Multivariate analysis retained superficial venous surgery during follow-up [odds ratio (OR) 8·4, 95% confidence interval (CI) 1·9–48·2] and percentage reduction of the VLU area at W4 (OR 1·6, 95% CI 1·0–2·14) as being independently associated with healing. Conclusions These results indicate that complete healing of long-standing, large VLUs is independently associated with ablation of the incompetent superficial vein and percentage of wound area reduction after the first 4 weeks of treatment.

Eccrine porocarcinoma is a rare cutaneous tumor arising from the intra-epidermal portion of eccrine sweat glands, the acrosyringium. Histoprognostic studies in large series are rare. Herein, we report a retrospective study of 50 cases.Fifty cases of porocarcinoma were retrieved from a histopathological register. Each histopathological sample was evaluated for the following criteria: presence or absence of dermal invasion, pattern of the infiltrative component (pushing or infiltrative), tumor thickness, lymphovascular emboli, perineural invasion and mitotic index. Clinical data and outcome were also retrieved for each patient.Mean patient age was 77 years (range: 43-99 years). The mean duration of progression prior to diagnosis was 4 years and 5 months. The 2 most common skin locations were the head (38%) and lower limbs (20%). The lesions showed no specific distinctive clinical features. Six cases were in situ, and 44 were invasive (23 with limited infiltration and 20 with scattered infiltration). Mean tumor thickness was 4.37 mm (range: 0.5 to 20 mm). Neighboring or remote epidermal involvement was noted in 7 cases. Lymphovascular emboli were observed in 3 cases. No cases of neurotropism were observed. The average mitotic index was 6.5 mitoses/high power (×400) field. A mean follow-up of 24.3 months was available for 48 patients. Local recurrence was noted in 5 patients, 4 of whom died from visceral metastases. These 5 cases showed no distinctive clinical features, a scattered pattern of the invasive component, cuticular cells, significant tumor thickness (mean 12.8 mm, range 9-20 mm), and an elevated mitotic index. Two histopathological criteria were significantly associated with a metastatic outcome: scattered pattern of the dermal invasive component (P=0.04) and significant tumor thickness, above 10mm (P0.01).Porocarcinoma is a tumor without any particular clinical criteria to distinguish it from squamous cell carcinoma. The architecture of the invasive component and tumor thickness constitute 2 important histoprognostic criteria.

Myosins are molecular motors that move along filamentous actin. Seven classes of myosin are expressed in vertebrates: conventional myosin, or myosin-II, as well as the 6 unconventional myosin classes -I, -V, -VI, -VII, -IX, and -X. We have mapped in mouse 22 probes encompassing all known unconventional myosins and, as a result, have identified 16 potential unconventional myosin genes. These genes include 7 myosins-I, 2 myosins-V, 1 myosin-VI, 3 myosins-VII, 2 myosins-IX, and 1 myosin-X. The map location of 5 of these genes was identified in human chromosomes by fluorescencein situhybridization.

Treatment of the readily available β-allene tosylates with LDA or nBuLi provides an expeditious, although stereorandom, synthesis of functionalized cyclopropanes which can be easily prepared in high enantiomeric purity.

Treatment of the readily available β-allene tosylates with LDA or nBuLi provides an expeditious, although stereorandom, synthesis of functionalized cyclopropanes which can be easily prepared in high enantiomeric purity.

Summary We report a new case of ‘large plaque-type blue naevus (PTBN) with subcutaneous cellular nodules’ involving the breast. A 25-year-old-woman presented with a large plaque, 140 × 100 mm in size, on the right chest wall involving the right breast, associated with recent subcutaneous nodules. Histopathological examination revealed features of cellular and common blue naevus. Dermatoscopy was performed, and the diagnosis of PTBN was made. PTBN is a rare condition with an imprecise prognosis. In cases of PBTN lesions on the head, clinicians must keep in mind the risk of malignant transformation of PTBN or an association with cutaneous neurocristic hamartoma. For this new variant of PTBN appearing on the trunk, we propose close monitoring of the patient if surgical excision is impossible.

Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease; it is potentially serious and is often refractory to conventional treatments, including corticosteroids. We report a new case of successful treatment of EBA using rituximab (anti-CD20 antibody) without relapse after 1 year of follow-up.A 76-year-old man was seen for blisters of the skin and mucosa, atrophic scars and milia on areas of friction. The diagnosis of EBA was made on the basis of histological and immunohistochemical criteria. The patient was unsuccessfully treated with topical steroids, dapsone, topical tacrolimus, systemic steroids, mycophenolate mofetil, doxycycline and methotrexate. Four weekly infusions of rituximab of 375 mg/m(2) body area were performed, combined with systemic steroids: they proved beneficial within 3 weeks, with a noticeable improvement and no further blisters at 7 months. After 1 year of follow-up, the skin disease is still stable with 5 mg/day of prednisone alone being given.This is the eighth reported case of treatment of EBA with rituximab and the sixth successful therapeutic outcome, with good steroid sparing effect and undeniable improvement in quality of life within several months and good tolerability at 12 months of follow-up. This treatment may be proposed early in cases of EBA refractory to conventional treatments. However, clinical observation is necessary to study potential long-term adverse effects.

Diffuse systemic sclerosis (DSS) is an autoimmune disease that is most often endogenous but which can also be induced by exogenous substances of occupational origin.We report a case of DSS involving prolonged intermittent occupational exposure to solvents (trichloroethylene [TCE] and perchloroethylene [PCE]). The disease was rapidly fatal with cardiac arrest secondary to myocardial fibrosis.In the event of exposure to TCE/PCE, we suggest more systematic prevention and diagnosis of DSS.

We report a large infiltrating atypical granular cell tumor in a child with Noonan syndrome. Even though granular cell tumors are rare in childhood, five cases have been reported in children with Noonan syndrome. This study compares these different cases and explores the possibility of activation of the granular cell by the Ras pathway.

The recent outbreak of an epidemic of West-Nile fever in New-York revealed this virus' responsibility in some cases of fatal encephalitis. However the clinical manifestations of the infection may be mild as in the case reported herein.A 41-year-old woman without previous medical history presented an acute febrile rash after a trip to Senegal. The course was spontaneously favorable after 5 days, with a biphasic fever at day 3. Reverse passive hemagglutination test confirmed the diagnosis of acute West-Nile fever.West-Nile virus, a mosquito-borne flavivirus is usually responsible for a flue-like disease presenting a maculopapular rash in half of the cases. The biphasic evolution of fever is suggestive of the diagnosis. The diagnosis relies on serological tests but cross-reactivities with heterologous flaviviruses may render the interpretation difficult. A rapid recovery is usual but fatal meningoencephalitis can occur especially in the elderly. Treatment is supportive and prevention is limitation of human exposure. West-Nile virus is widely distributed (Africa, Asia, Middle East), but is also endemic in european areas and responsible for seasonal infections.

We report the case of a 69-year-old woman who presented a papular eruption on the eyelids. Histological features revealed a tuberculoid granuloma with a central caseating necrosis. Laboratory and radiological investigations revealed no tuberculosis and no systemic granulomatosis. Absence of vascular symptoms, inefficiency of cyclines and histopathological findings excluded granulomatous-type rosacea. Lupus miliaris disseminatus faciei (LMDF) was our final diagnosis. On the basis of our findings and a literature review, we believe that LMDF is an entity distinct from either skin tuberculosis or granulomatous-type rosacea. However, its name is confusing, and we propose to change it to 'facial idiopathic granulomas with regressive evolution (FIGURE)'.

Brush border myosin-I is a class I myosin with calmodulin light chains that has been identified in several vertebrate species. In chicken, it is exclusively expressed in intestinal epithelial cells where it forms spirally arrayed bridges that tether the microvillar actin bundle to the membrane. To facilitate future knockout strategies, we have isolated mouse brush border myosin-I cDNA and genomic clones. The deduced primary structure of mouse brush border myosin-I is homologous to other known brush border myosins-I. Northern blot, immunoblot, and immunolocalization studies indicate that the intestine-specific and subcellular localization profile of mouse brush border myosin-I are comparable to that determined for other brush border myosins-I. Northern analysis during embryogenesis revealed a 3.9-kb transcript first detected in 15-day embryos. This is in marked contrast to chicken, where brush border myosin-I expression begins early in embryogenesis. In situ localization in 17-day embryos indicated that RNA expression is restricted to the intestine. Protein expression is first detected in 16-day embryos with decreasing levels observed in a proximal to distal fashion. Immunolocalization in embryonic intestine revealed that brush border myosin-I is evenly distributed on both apical and basolateral membrane domains. There is also pronounced localization to a supranuclear region, presumably the Golgi apparatus. This suggests that brush border myosin-I may be targeted to the plasma membrane on Golgi-derived vesicles rather than by direct targeting to microvillar actin cores.

The human intestinal cell line, Caco-2BBe, has been established as an excellent model system for analysis of the enterocyte cytoskeleton including that of the actin rich apical brush border. To facilitate its use for functional analysis of a major component of the brush border, brush border myosin-I, human cDNAs encoding the heavy chain of this class I myosin were isolated and sequenced. The identity of this myosin as human brush border myosin-I was verified based on similarity with other vertebrate sequences, as well as its expression profile at both the RNA and protein levels. Localization of the protein in human intestine along the crypt-villus axis closely resembles that previously determined for brush border myosin-I in chicken, and is quite distinct from that of myosin-Ic, another myosin-I expressed in human intestine and Caco-2BBe cells. In immature cells of the crypt, brush border myosin-I staining is low, and there is significant cytosolic and basolateral localization, while villus cells stain much more intensely, and the protein is primarily localized to the brush border. Localization of myosin-Ic is essentially the inverse of brush border myosin-I in that crypt cells exhibit higher levels of staining, while villus cells have very low levels of myosin-Ic. The expression of both myosins-I was also examined during cell-contact induced differentiation of Caco-2BBe cells where expression and changes in localization closely resemble those that accompany differentiation of enterocyte in vivo.

In collaboration with Mexico City government officials, a vehicle demonstration was designed to show the benefits of an oxidation catalyst retrofit. This paper presents emission results of Mexico City's taxi fleet vehicles and displays the effectiveness of a Pt/Pd oxidation catalyst system in lowering emission levels. Two fleet vehicles were emission tested before and after catalyst retrofit modifications with the U.S. FTP-75 vehicle test method. Carburetor modifications were also included to study the effects of engine tuning on engine emissions and catalyst performance. A catalyst retrofit is one approach for achieving reductions in emissions. Prerequisites to a catalyst retrofit are the availability of lead-free fuel and proper engine maintenance schedules. For the covering abstract see IRRD 851463.

One of the central points of debate in the discussion of whether oxidation catalysts are capable of working with leaded-fuel is the simulation of in-use mileage accumulation. Various catalyst ageing cycles have been proposed. Some engine cycles have been shown to only slightly deactivate catalysts, while road ageing experience typically produces significant catalyst deactivation. This paper will report the influence of three different engine ageing cycles on oxidation catalyst durability when a typical 0.15 g Pb/liter European fuel is used. Steady-state ageing at either 370 deg C or 590 deg C inlet temperatures were compared to a multi-mode cycle with a maximum catalyst inlet temperature of 760 deg C. The multi-mode cycle was developed as a simulation of the CCMC cycle requirements based on information obtained from characterizing a vehicle driven according to the recommendations of the CCMC.

Among the multiple forms of clinically atypical cutaneous sarcoidosis, lesions limited to light-exposed areas are rare. We describe a fourth observation.A phototype V 51-year-old woman, born in Tunisia presented with papular erythema on the face. Treatment with topical steroids did not result in any improvement. Biopsy specimen revealed a non caseating granuloma according with sarcoidosis. Assessment for systemic sarcoidosis was negative. Phototesting showed no abnormalities. The patient was successfully treated with chloroquine.Only three similar observations are reported in the literature. The role of light exposure despite the negative phototesting seems to be real. The tallying of these four observations permits one to isolate photo-induced sarcoidosis as a single entity.

The cause of iron overload in prophyria cutanea tada is unknown. The aim of this work was to determine the frequency of the hemochromatosis gene (HFE) in 56 patients with porphyria cutanea tarda. We analyzed the relationship between HFE mutations and biochemical abnormalities in porphyria cutanea tarda and the interaction with other triggering factors of porphyria cutanea tarda (alcohol abuse, hepatitis C, drugs).Hepatitis C, alcohol abuse, drug intake and HFE mutations were determined in 56 patients with porphyria cutanea tarda (44 men and 12 women). Iron status was determined from transferrin saturation, serum iron, and serum ferritin. Liver metabolism was determined from liver chemistries: alanine aminotransferase, aspartate aminotransferase, and gamma-glutamyl transpeptidase.Thirty-nine patients (69.4 p. 100) carried HFE mutations, 18 (32.1 p. 100) were H63D heterozygous, 4 (7.1 p. 100) were H63D homozygous, 9 (16 p. 100) C282Y heterozygous, 8 (14.2 p. 100) compound C282Y/H63D heterozygous and none were C282Y homozygous. Comparison between porphyria cutanea tarda with and without mutations showed that compound C282Y/H63D heterozygous status was significantly linked to iron overload: transferrin saturation=0.61 vs 0.39 (p=0.0001) and serum iron=32.9 vs 22.4 (p=0.0046). H63D homozygous status was linked to iron overload but non-significantly: transferrin sturatin=0.53 vs 0.39 (p=0.06). The class with high iron overload (transferrin saturation0.45) was not linked with triggering factors of porphyria cutanea tarda. Hepatatic cytolysis was linked to alcohol abuse and hepatitis C but not to HFE mutations.The frequencies of HFE mutations in Lyons France are halfway between Anglo-Saxon and Italian papers, highlighting the Celtic origin of C282Y mutation. Compound heterozygous and to a lesser degree H63D homozygous status explained the highest iron overload in our patients. This favors clinical expression of porphyria cutanea tarda. This iron overload due to HFE mutations is a new triggering factor of porphyria cutanea tarda independent of classical triggering factors: mutation of the erythrocytic uroporpyrinogen decarbocylase gene, alcohol abuse, hepatitis C, and drugs.