[The tube in tube thoracodorsal perforator flap phalloplasty]. / Phalloplastie par Lambeau perforant thoracodorsal « tube in tube ¼.

This article deals with a clinical case of a tube in a tube TDAP phalloplasty in a 38 years old trans-man. While penis reconstruction surgery aroused an efflorescence of different operative techniques, the resulting female to male surgery sees these procedures boil down to two or three flaps. If we usually discuss before surgery about the way to lengthen the urinary tract, as the way to implant later for intercourse; the choice of the donor site remains too systematized. Surgeons commonly focus on the reconstructed site prior to the donor site. In this case, laxity in the back and reliability of direct closure make us harvest the thoracodorsal perforator flap. Dissection of perforators saves muscular function and direct closure afford an aesthetic result less visible than a graft on the forearm. The thin flap we harvest allows tube in tube phalloplasty so that phallus and urethra are being built in the same time. One case has been reported in the literature of thoracodorsal perforator flap phalloplasty with grafted urethra, but no case of tube within a tube TDAP phalloplasty.

[Type I interferonopathies]. / Interféronopathies de type I.

Type I interferonopathies are a group of Mendelian disorders characterized by a common physiopathology: the up-regulation of type I interferons. To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome. These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life. This novel set of inborn errors of immunity is evolving rapidly, with recognition of new diseases and genes. Recent and improved understanding of the physiopathology of overexpression of type I interferons has allowed the development of targeted therapies, currently being evaluated, like Janus-kinases or reverse transcriptase inhibitors.

[Massive localized lymphedema]. / Lymphœdèmes massifs localisés.

BACKGROUND: Massive localized lymphedema (MLL) is a benign soft-tissue lesion that usually presents as a large and isolated mass in morbidly obese adults. PATIENTS AND METHODS: We report the case of a 39-year-old woman presenting obesity and multiple MLL. There was a large tumor in the left groin and two smaller lesions on the backs of the thighs. DISCUSSION: MLL is a benign tumor that must be removed wherever possible because such tumors may degenerate into angiosarcomas in 13% of cases. MLL is probably secondary to a prolonged obstruction of lymphatic vessels due to marked excess of adipose tissue.

[Multiple primary cutaneous plasmacytoma]. / Plasmocytomes cutanés primitifs multiples.

BACKGROUND: Primary cutaneous plasmacytoma is a rare form of cutaneous B-cell lymphoma. PATIENTS AND METHODS: A 51 year-old male with an unremarkable history gradually presented erythematous papulonodular lesions that had appeared gradually over the whole body throughout a two-year period and showing histologic and immunohistochemical features of cutaneous plasmacytoma. Staging investigations confirmed the primary character of the disease, and because of this and the absence of functional impairment, we opted for therapeutic abstention. No progression was noted after 4 years of regular monitoring. DISCUSSION: Primary cutaneous plasmacytoma (PCP) is characterized by clonal proliferation of plasma cells in skin. Multiple PCPs are extremely rare and to date have been treated in most cases by chemotherapy, either with or without radiotherapy. The prognosis is poor, with 2-year survival of only 25%. The present case is original, being the only one to our knowledge in which therapeutic abstention was followed by a lack of progression after 4 years of regular follow-up. Consequently, certain indolent forms of PCP do not warrant automatic institution of chemotherapy.

[Multiple familial "eruptive" dermatofibromas]. / Dermatofibromes multiples « éruptifs ¼ familiaux.

BACKGROUND: Multiple eruptive dermatofibromas (DF) are rare and frequently associated with immune and neoplastic diseases. There have also been reports of rare familial cases. Herein we report a new such case. PATIENTS AND METHODS: A 79-year-old woman and her 37-year-old daughter were seen for disseminated DF over a period of several decades, from adolescence onwards. Neither had any history of diseases or treatments normally associated with multiple DF. History-taking revealed similar lesions in other family members. DISCUSSION: DF are common benign cutaneous tumours, generally seen on the lower limbs of young or middle-aged women. These lesions occur either in isolation or are relatively few. Multiple or so-called eruptive DF, defined by the presence of more than 15 lesions in a single patient, is rare and is associated in 60% of cases with autoimmune diseases, HIV infection, neoplastic disease or immunosuppressant therapy. Familial forms such as those described herein are extremely rare.

Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease.

Multiple cutaneous and uterine leiomyomatosis (MCUL)/hereditary leiomyomatosis and renal cell cancer (HLRCC) (OMIM 150800/OMIM 605839) is a rare hereditary disorder leading to the development of benign cutaneous and uterine smooth muscle tumours in young adults.(1,2) This disease is characterized by an increased risk of developing renal cell carcinomas.(3) It results from dominantly inherited autosomal mutations in the fumarate hydratase (FH) gene.(4) This gene encodes a Krebs cycle enzyme, present in both cytosolic and mitochondrial compartments, and probably acts as a tumour suppressor gene. We report a 22-year-old man affected by cutaneous leiomyomatosis associated with cutis verticis gyrata, disseminated collagenoma and Charcot-Marie-Tooth disease, who was harbouring the novel FH gene mutation c.821C > T, p.Ala274Val.

Medallion-like dermal dendrocyte hamartoma: the main diagnostic pitfall is congenital atrophic dermatofibrosarcoma.

Medallion-like dermal dendrocyte hamartoma is a newly described and rare clinical and pathological entity. This congenital, round, erythematous and atrophic lesion in the thoracic area is histologically characterized by a CD34+ dermal and hypodermal spindle-cell infiltration. We describe the clinical, histopathological, cytological and molecular features of three cases of dermal dendrocyte hamartoma. In all the cases, atrophic congenital dermatofibrosarcoma protuberans (DFSP) was the first histological diagnosis. In one case, wide surgery had been performed on the basis of the clinical and histological presentation. The histological pattern was similar in all the cases: epidermal atrophy and a spindle to ovoid cell proliferation in the dermis and in the subcutaneous fat. Immunochemical staining for CD34 and factor XIIIa was positive. Cytogenetic and molecular studies were performed; no chromosomal abnormality nor translocation t(17;22)(q22;q13) was observed. Fluorescence in situ hybridization analysis did not reveal the DFSP fusion gene COL1A1-PDGFB. We observed that the main diagnostic pitfall of medallion-like dermal dendrocyte hamartoma is atrophic congenital DFSP due to clinical and histological similarities. We emphasize that molecular studies to eliminate the t(17;22)(q22;q13) translocation of DFSP may provide determinant elements for diagnosis in order to avoid unnecessary mutilating surgery.

[Premature aging syndromes : From phenotype to gene]. / Syndromes avec vieillissement cutané prématuré : de l'expression phénotypique au gène.

Syndromes involving premature skin aging provide outstanding models for a better understanding of both skin senescence and of the aging process in general. Although initially merely descriptive, these rare or indeed very rare conditions have been studied in detail and their genetic and biochemical background has been elucidated. The new data are now sufficiently accurate to allow the development of a new classification based on the underlying biochemical pathomechanisms. Three main subsets can be distinguished: progeroid syndromes with direct or indirect impairment of lamin A (progeria), syndromes involving dysfunction of the excision/repair apparatus (Cockayne syndrome), and conditions involving chromosome instability, particularly in the event of helicase mutation (Werner and Rothmund-Thomson syndromes, ataxia-telangiectasia). The diagnosis is still based on clinical examination in most cases, with the dermatologist commonly playing a key role because of the frequently obvious nature of skin changes, whereas other abnormalities may be less clear-cut or initially absent. Specialized genetic studies to confirm phenotypic hypothesis are increasingly available thanks to the development of reference centres. Although treatment continues to be symptomatic in most cases, recent advances in basic research have raised new hopes regarding targeted therapies, notably in progeria.

[Congenital melanotic macules of the tongue]. / Macules mélanotiques congénitales de la langue.

BACKGROUND: Congenital oral and labial melanotic macules are the leading causes of hyperpigmented lesions of the oral mucosa in adults. Although they usually appear in the second decade of life, there are rare reports of these phenomena in children. Congenital lingual melanotic macules have been recently identified as a peculiar and benign cause of hyperpigmentation of the tongue in newborn babies and infants. CASE REPORTS: We describe the cases of five infants presenting with smooth brown macules of the dorsum of the tongue, measuring several millimetres and detected either at birth or a few days after birth. No history of trauma, medication or similar lesions in relatives was found. Surgical excision of the lesions was performed in two cases. Clinical follow-up in the three other children showed no changes in the lesions in the first two and lightening of the brown macules in the third. DISCUSSION: Congenital lingual melanotic macules represent a clinically distinct and benign cause of hyperpigmentation of the oral mucosa. They may be more common than the literature suggests, especially among dark-skinned subjects.

[Acute onset Hodgkin's disease following Lyell's syndrome]. / Maladie de Hodgkin à début aigu au décours d'un syndrome de Lyell.

BACKGROUND: In most cases, toxic epidermal necrolysis is a drug-induced reaction. Other causes such as lymphomas have also been suspected. We report herein a new association of toxic epidermal necrolysis and Hodgkin's disease in a male patient. CASE REPORTS: A 62-year-old man consulted for erythroderma, scalded skin and mucous erosions involving the oral, nasal and genital areas. Nikolsky's sign was present. Cutaneous biopsy confirmed the diagnosis of toxic epidermal necrolysis. Our patient acknowledged intake of fexofenadine 48 hours before the eruption. He also developed enlarged lymph nodes whose histopathological examination revealed Hodgkin's disease. Exploration of cytolytic hepatitis disclosed replicating chronic viral B hepatitis. The skin disorder quickly improved and our patient underwent CHOP chemotherapy. DISCUSSION: Association of toxic epidermal necrolysis and lymphoproliferative disorders has been reported. Development of toxic epidermal necrolysis is normally related to administration of antineoplastic drugs. However, lymphomas may be diagnosed after the onset of toxic epidermal necrolysis in the absence of drug intake, pointing to a possible aetiological role of haematological disease in the development of toxic epidermal necrolysis.