[Sub-total hereditary leukonychia, histopathological and electron microscopy study of "milky" nails]. / Leuconychie héréditaire subtotale. Etude histopathologique et ultrastructure des ongles "laiteux".

INTRODUCTION: Leuconychia is the most common of ungueal discoloration or dyschromia. The hereditary form, sub-total or total, is very rare. We report the observation of a family in which thirteen members, distributed over four generations, presented a partial or subtotal leukonychia of all nails. On the basis of this observation and histopathological analysis of the propositus nail, we discuss the different hypotheses proposed to account for white nails. OBSERVATION: A 45 year-old man without previous medical history, showed partial or sub-total leukonychia of his twenty nails. Clinical examination revealed soft nails with slow growth. Discoloration or dyschromia was associated with koilonychia on the fingers without other cutaneous or visceral abnormalities. A longitudinal biopsy of the whole ungueal apparatus of the large toe was performed. Histopathological analysis showed parakeratosis and an abnormal granular layer thickened on the proximal and ventral womb. These abnormalities were responsible for heterogeneous HES coloration, lamellar and dissociated aspect of the nail plates. Electron microscopy revealed dissociated keratin bundles and the existence of intracytoplasmic clear vacuoles probably of lipid origin. This aspect was observed on the proximal part of the dorsal tablet and disappeared in the distal portion of the nail. DISCUSSION: According to Newton's theorem, a surface appears white when it reflects all the radiation of visible light. This mechanism can be proposed to explain leukonychia. On histological level, parakeratosis and dissociation of the keratin bundles may play a role in the modification of the solar light reflection by ungueal plates. In our case, parakeratosis and disorganization of keratin bundles were present in the white part of the nail, but also in the distal, pinkish crescent (distal dorsal plate). Electron microscopy analysis showed clear vacuoles located in the white part of the nail, whereas they were not seen in the distal part. These observations confirm the probable participation of parakeratosis and keratin abnormalities in this pathology but also suggest an important role of lipid vacuoles. Therefore, some white nails may in fact be "milky" nails. Finally, disorganization of the keratin bundles observed, was also reported in other genodermatosis e.g.: epidermolysis bullosa simplex. In this latter pathology, some hard keratin genes mutations (K5 and K14) have been demonstrated. According to these results, a genetic study is on going in this family in order to search for a mutation in one of the hard keratin genes.

[Acquired dermal melanocytosis: clinical, pathological and ultrastructural study]. / Mélanocytose dermique acquise: étude anatomo-clinique et ultrastructurale.

INTRODUCTION: Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis. There are several clinical forms. This report describes an unusual case of acquired dermal melanocytosis probably associated with leptomeningeal melanosis. An ultrastructural study was performed. CASE REPORT: A 52-year-old Caucasian woman presented with a fifteen-year history of slowly spreading gray-blue macular pigmentation, associated with multiple blue nevi. Histologic examination revealed dermal melanocytosis. An extracellular sheath surrounded the melanocyte and their cytoplasmic processes. Medullar magnetic resonance findings were compatible with leptomeningeal melanosis. DISCUSSION: Dermal melanocytosis is thought to represent a disorder of neural crest migration. Melanocytes are thought to be aberrant and become arrested during migration, remaining in the dermis. Reactivation of latent dermal melanocytes should explain the pathogenesis of acquired forms. Ultrastructural examinations show an extracellular sheath enclosing dermal melanocytes in all types of dermal melanocytosis.

Multiple idiopathic mucocutaneous neuromas: a new entity?

We report a 53-year-old woman who presented with multiple painful red cutaneous papules that had been growing slowly for 13 years. Histopathology showed typical features of neuroma. Biological, morphological and genetic investigations were negative and excluded the diagnosis of multiple endocrine neoplasia type 2b. After reviewing the literature, we concluded that our patient has an extremely unusual acquired disease, which must be considered as a distinct entity in the spectrum of cutaneous neurological disorders.

[Role of the hemochromatosis gene in prophyria cutanea tarda. Prospective study of 56 cases]. / Rôle du gène de l'hémochromatose (HFE) dans la porphyrie cutanée tardive. Etude prospective de 56 cas.

BACKGROUND: 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). PATIENTS AND METHODS: 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. RESULTS: 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 saturation > 0.45) 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. DISCUSSION: 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.

[Chicken pox recurrence revealing a renal adenocarcinoma in an adult]. / Récidive de varicelle révélatrice d'un adénocarcinome rénal chez un adulte.

A new episode of chicken pox in adults who had a well documented infection previously is usually observed in immunocompromised individuals. The principal immunodeficiency factors are hematology diseases, acquired immunodeficiency disease and old age. We report here the case of a young woman who after a contaminating contact presented a recurrence of typical chicken pox. Morphological investigations evidenced a right kidney tumor which pathology revealed to be a renal adenocarcinoma. We discuss this pathological association and review cases reported in the literature.

Guess what! SALT - related B-cell lymphoma presenting as a xanthomatous infiltration of the neck.

A 37-year-old man without previous medical history working as a lock keeper was seen in our unit for a progressive painless subcutaneous flesh coloured infiltration of the lower anterior area of the neck growing slowly over 5 months. Clinical cutaneous findings showed a non pruriginous yellowish papulonodular eruption mimicking xanthomas (Figs. 1 and 2). No other clinical abnormalities were found. A cutaneous biopsy specimen was performed. Histopathological examination revealed, under a normal epidermis, a dense lymphoplasmocytoid infiltrate involving the dermis with periadnexal and perivascular reinforcement (Figs. 3 and 4).

[Acquired peeling skin syndrome in an adult]. / Syndrome de desquamation continue ("peeling skin syndrome") acquis à l'âge adulte.

BACKGROUND: Peeling skin syndrome is a rare form of congenital ichthyosis. The term was coined in 1982 by Levy and Goldsmith and the syndrome is clinically characterized by generalized scaling. Histologically, there is an epidermal separation in the stratum corneum. CASE REPORT: We report the case of a 73-year-old woman who had ichthyosis without cicatricial progressive alopecia since her first pregnancy. An ultrastructural study was performed confirming the clinical diagnosis of peeling skin syndrome. DISCUSSION: The peeling skin syndrome designates several different clinical entities classed by Traupe in type A and type B. Mevorah and al. expanded this classification with a type C. This classification has remained valid after additional information provided by ultrastructural studies and may suggest different pathogenic mechanisms underlying the dermatosis. A critical review of the literature shows that the case reported here is exceptional and had a late clinical onset.

Ulcerated cutaneous epithelioid hemangioendothelioma.

Epithelioid hemangioendothelioma described first by Weiss and Enzinger in 1982 is an uncommon vascular tumor usually involving soft tissue, less frequently the lung and the liver and exceptionally the skin. We herein report a 52-year-old woman who presented an isolated moderately painful persistant ulceration of the concha of her left ear. Histopathological findings showed strands and nests of epithelioid endothelial cells typical of cutaneous epithelioid hemangioendothelioma. Immunohistochemical stainings confirmed the vascular nature of the tumor. Surgical excision by ear amputation was performed. In a review of the literature, to our knowledge, this clinical presentation as ulceration has never previously been reported.

[Cutaneous lymphangiectasias acquired after surgical and radiotherapy treatment of breast cancer. Two cases]. / Lymphangiectasies cutanées acquises après traitement chirurgical et radiothérapique du cancer du sein. A propos de 2 cas.

We report 2 cases of acquired lymphangiectasias after breast radiosurgical treatment. This well known, rarely reported complication is probably due to a mechanical obstruction of the lymphatic network, and is generally preceded by lymphedema. Our 2 cases, however, did not have previous lymphedema. After a review of the literature, we discuss the role of reparative surgery and other treatment options.

Linear cutaneous lupus erythematosus in an adult.

We report on a 32-year-old female with a 3-year history of an asymptomatic erythema of the forehead. The lesion had a linear distribution following the lines of Blaschko. Histopathological findings and direct immunofluorescence allowed to establish the diagnosis of cutaneous lupus erythematosus. Treatment with local corticosteroid and antimalarial agents given for 2 months resulted in a complete remission.

[Solitary schwannoma of the balanopreputial sulcus]. / Schwannome solitaire du sillon balano-préputial.

INTRODUCTION: Solitary schwannoma is usually located in the head area and the limbs. We report a case of benign solitary schwannoma of the retroglandular sulcus of the glans penis. CASE REPORT: A 64-year-old man had developed over the past year an asymptomatic nodule arising from the retroglandular sulcus of the glans penis. The nodule was removed surgically and histopathological study showed benign schwannoma. There was no association with neurofibromatosis or schwannomatosis. DISCUSSION: Benign solitary schwannoma of the penis is rare. It is most often located on the dorsal shaft of the penis in a young adult. Surgical excision is required. Malignant schwannoma of the penis is very rarely reported.

[Acquired tufted angioma in an adult]. / Angiome en touffes acquis de l'adulte.

INTRODUCTION: Acquired vascular tumors have been raising new interest since Kaposi's illness was discovered in human immunodeficiency virus infection. We herein report a case of a rare different entity of acquired vascular tumor, described by E. Wilson-Jones for the first time in 1976. CASE REPORT: A 69-year-old woman had had for several months an asymptomatic erythematous lesion on the face gradually increasing in size. Histopathologic findings were pathognomonic of "tufted" angioma. The patient did not receive any treatment because of uncertain efficiency and because her lesion was well tolerated. DISCUSSION: "Acquired tufted angioma" is a benign angioma of the skin mainly occurring in children and young adults of both sexes. Histopathologic findings are pathognomonic. Typically, tufted angioma enlarges for a few years and then ceases growing and remains stable. Spontaneous regression may occur. The principal differential diagnoses are Kaposi's illness and low grade malignant angiosarcoma. Pulsed dye laser in the most efficient treatment.

Generalized granuloma annulare and hepatitis B vaccination.

As hepatitis B vaccination is becoming generalized in Europe, cutaneous adverse events are being more frequently reported in the literature. We report the first case of generalized granuloma annulare following hepatitis B immunization. A 51-year-old woman presented a generalized granuloma annulare one month after the one-year booster injection of the hepatitis B vaccine. The lesions resolved with sulfone therapy. We observed an identical recurrence three weeks after the five-year booster.

[Melkersson-Rosenthal syndrome]. / Syndrome de Melkersson-Rosenthal.

Melkersson-Rosenthal syndrome is a rare entity and is, in its complete presentation, characterized by the association of recurrent orofacial swelling, peripheral facial palsy and plicated tongue. Clinical diagnosis of incomplete forms, frequently described, is based on major and minor features, currently accepted by numerous clinicians. For most investigators, Miescher's granulomatous macrocheilitis is a monosymptomatic form of the affection. Histopathological findings reveal non-caseating epithelioid cell granulomas, with sometimes perivascular pathognomnic arrangement, which typically shows an obliterant epithelioid lymphangitis. The etiology of the disorder is unknown; a possible association with Crohn's disease has been proposed. Local or general corticosteroids therapy is usually proposed possibly with a cheiloplastic procedure.