M. Marque

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

BACKGROUND Children with multiple café-au-lait macules (CALMs) may be followed for years before a second National Institutes of Health clinical criterion of neurofibromatosis type 1 (NF1) develops to confirm the diagnosis. OBJECTIVE We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its association with neuro-ophthalmologic complications. METHODS This was a prospective multicenter case-control study of 210 consecutive patients with multiple CALMs. Patients with NF1 were matched for age, sex, and center with control subjects. We documented the number, location, and morphologic appearance of NA; dermatologic features of NF1; magnetic resonance imaging results; and family history. RESULTS In all, 77 (51%) patients with NF1 had NA compared with 6 (2%) control subjects. NA was not detected in 26 patients with other genodermatoses associated with CALMs. Patients with NF1 and NA were younger than those without NA (median age: 17 years) (P = .002). NA was mostly localized to the upper anterior aspect of the chest. NA was not significantly linked with other clinical manifestations of NF1, including optic glioma and unidentified bright objects. LIMITATIONS A potential referral bias associated with tertiary care centers is a limitation. CONCLUSIONS NA appears to have a high prevalence and specificity in NF1 and might serve as a marker for NF1 in children with multiple CALMs.

Lipoatrophic connective tissue panniculitis.

Abstract:  Many causes of what was formerly called Weber‐Christian and Rothmann‐Makai diseases are being clarified as specific forms of panniculitis. Among them, an autoimmune process involving the subcutaneous fat without criteria for another defined disorder coined “connective tissue panniculitis” by Winckelman et al in 1980 has been described. We describe this disease in a 4‐year‐old boy who presented with multiple subcutaneous inflammatory nodules that extended in an annular fashion, resolved leaving lipoatrophy, with recurrence 8 years later. The histologic findings were consistent with a granulomatous lipophagic panniculitis. We review previous reports and emphasize the limited therapeutic options, chronic evolution, severe esthetic sequelae and possible association with other autoimmune disorders of this uncommon condition.

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.

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.

Superficial Lymphangitis after Arthropod Bite: A Distinctive but Underrecognized Entity?

Background: Acute bacterial lymphangitis is a common occurrence after skin damage. This diagnosis is often made in case of red linear streaks after arthropod bites, leading to the prescription of oral antibiotics. In this setting, noninfectious superficial lymphangitis after arthropod bites, an eruption rarely mentioned in the medical literature, appears as a diagnostic challenge. Objective: Our purpose was to study the clinical and histopathological features of this underrecognized condition. Methods: We collected the observations of six consecutive patients seen between the years 2003 and 2006, who developed an acute linear erythematous eruption along lymphatic vessels, mimicking common bacterial lymphangitis. Standard histological examinations were completed by immunopathological staining using the monoclonal antibody D2-40, a highly selective marker of lymphatic endothelium. Extensive review of the literature about acute noninfectious superficial lymphangitis was performed. Results: The clinical presentation and histological findings excluded an infectious etiology and suggested superficial lymphangitis after an arthropod bite in all the observations. Conclusions: This article analyzes the clinical and histological features of noninfectious superficial lymphangitis after arthropod bite, a benign underrecognized condition mimicking common bacterial lymphangitis. Physicians should be aware of this benign reaction to avoid the useless prescription of antibiotics.

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.

Maladie de Hodgkin à début aigu au décours d’un syndrome de Lyell

Resume Introduction Les syndromes de Lyell sont d’origine medicamenteuse dans la majorite des cas. D’autres facteurs etiologiques dont les lymphomes ont ete suspectes. Nous rapportons l’association d’un syndrome de Lyell et d’une maladie de Hodgkin chez un malade. Observation Un homme de 62 ans, sans antecedent, consultait pour une erythrodermie avec decollement cutane et erosions muqueuses orales, nasales et genitales. La biopsie confirmait le diagnostic de syndrome de Lyell. L’interrogatoire trouvait la prise de fexofenadine 48 heures avant le debut de l’eruption. Le malade developpait rapidement de volumineuses adenopathies cervicales indurees pour lesquelles le diagnostic de maladie de Hodgkin etait pose apres biopsie exerese d’un ganglion. L’exploration d’une cytolyse hepatique mettait en evidence une hepatite B chronique en phase de replication. L’evolution cutanee etait rapidement favorable et un traitement par chimiotherapie de type CHOP etait debute. Discussion L’association d’un syndrome lymphoproliferatif, et plus rarement de maladie de Hodgkin, a un syndrome de Lyell a ete rapportee. Il s’agit le plus souvent d’hemopathies deja connues pour lesquelles leur traitement constitue une etiologie possible de syndrome de Lyell. L’existence de lymphomes dont le diagnostic est porte apres celui de syndrome de Lyell, et parfois sans aucune prise medicamenteuse, pose le probleme de leur role etiologique dans cette affection.

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature

Background: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. Objective: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. Methods: A 10‐year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed. Results: Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty‐three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified. Limitations: The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study. Conclusions: Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.

Dermatofibromes multiples « éruptifs » 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.

Hémopathies myéloïdes, lymphoïdes et leucémies

Les hemopathies malignes peuvent s’accompagner de lesions cutanees ou muqueuses dont la connaissance est importante adouble titre: elles peuvent etre les premieres manifestations de l’hemopathie permettant sa reconnaissance et certaines d’entre elles marquent un tournant significatif du pronostic de l’affection imposant une modification therapeutique. La difficulte clinique repose principalement sur le polymorphisme lesionnel des lesions dermatologiques al’origine d’une importante diversite des presentations cliniques. La classification historique opposant les lesions cutanees dites «specifiques» des «non specifiques» est abandonnee au profit d’une classification plus fonctionnelle distinguant: — les lesions cutanees specifiques liees al’infiltration des cellules tumorales dans la peau ou les muqueuses; — les lesions cutanees dites «satellites», paraneoplasiques, meme si la definition stricto sensu du caractere paraneoplasique n’est pas constante; — les infections cutanees; — les effets secondaires cutaneo-muqueux des traitements des hemopathies, en priorite les chimiotherapies, abordes en detail dans le chap. 71, «Effets cutaneo-muqueux indesirables des chimiotherapies antitumorales».