Publications by authors named "Lobna Boussofara"

33 Publications

Pyogenic Granuloma-Like Kaposi Sarcoma: A Diagnostic Challenge.

Skinmed 2020 1;18(6):378-379. Epub 2020 Dec 1.

Department of Dermatology Farhat Hached University Hospital, Sousse, Tunisia.

An 81-year-old woman presented with a 2-month history of a painless nodule on the left foot that bled easily after minor trauma. She had no medical history and did not report any preexisting lesion. Physical examination revealed a 2 cm × 3 cm, exophytic and reddish-colored nodule, with an ulcerated and soft surface (Figure 1). There were no other skin lesions or abnormal physical findings. The diagnosis of a pyogenic granuloma (PG) was suggested. A biopsy specimen was obtained from the center of the lesion and stained with hematoxylin and eosin. Histopathologic examination revealed a marked proliferation of both capillary cells and spindle-shaped cells separated by slit-like vessels containing multiple erythrocytes (Figure 2A). Immunochemical analysis showed positivity for CD34 and (HHV)-8 in both endothelial and spindle cells (Figure 2B). Perls' staining showed abundant hemosiderin deposits in the tumor stroma (Figure 2C). These findings were consistent with the diagnosis of Kaposi sarcoma (KS). Laboratory tests eliminated a human immunodeficiency virus (HIV) infection, and no metastatic lesions were found on radiologic examinations. The lesion was treated with laser excision, with no recurrence at the 2-year follow-up.
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http://dx.doi.org/DOI Listing
December 2020

Prurigo Pigmentosa Following Ketogenic Diet.

Am J Med 2021 04 11;134(4):e291-e292. Epub 2020 Nov 11.

Department of Dermatology, Farhad Hachad Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1016/j.amjmed.2020.10.016DOI Listing
April 2021

[Capecitabine aggravating lentiginosis].

Therapie 2020 Feb 21. Epub 2020 Feb 21.

Département de dermatologie, hôpital Farhat Hached, 4000 Sousse, Tunisie.

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http://dx.doi.org/10.1016/j.therap.2020.02.015DOI Listing
February 2020

Inverse Pityriasis Rosea.

Indian Pediatr 2019 11;56(11):981

Dermatology Department, Farhat Hached University Hospital Ibn Jazzar Avenue, Sousse, Tunisia.

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November 2019

Glomus Tumor of the Buttock.

Dermatol Pract Concept 2019 Oct 31;9(4):318-319. Epub 2019 Oct 31.

Dermatology Department, Farhat Hached University Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.5826/dpc.0904a19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6830544PMC
October 2019

Unilateral pityriasis rosea.

Int J Dermatol 2020 Feb 24;59(2):e27-e28. Epub 2019 Oct 24.

Department of Dermatology, Farhat Hached University Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1111/ijd.14682DOI Listing
February 2020

Temporal Triangular Alopecia: Trichoscopic Diagnosis.

Skinmed 2019;17(3):219-220. Epub 2019 Sep 9.

Dermatology Department, Farhat Hached University Hospital, Sousse, Tunisia.

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May 2020

Bowen disease of the nailfold: dermoscopic diagnosis.

Int J Dermatol 2019 Dec 4;58(12):e252-e253. Epub 2019 Sep 4.

Department of Dermatology, Farhat Hached University Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1111/ijd.14624DOI Listing
December 2019

An unusual photodistributed acute generalized exanthematous pustulosis induced by terbinafine.

Therapie 2019 09 28;74(4):502-504. Epub 2019 Feb 28.

Dermatology Department, Farhat Hached University Hospital, Faculty of Medicine, 4002 Soussse, Tunisia.

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http://dx.doi.org/10.1016/j.therap.2019.02.004DOI Listing
September 2019

Alopecia areata in Tunisia: epidemio-clinical aspects and comorbid conditions. A prospective study of 204 cases.

Int J Dermatol 2019 Jul 24;58(7):811-815. Epub 2019 Jan 24.

Dermatology Department, Farhat Hached University Hospital, Sousse, Tunisia.

Background: Alopecia areata (AA) is an autoimmune condition that usually presents as patchy, nonscarring hair loss. Autoimmune disorders and atopy are reported as comorbid conditions. We aimed to investigate the demographics, clinical characteristics, and associations of AA in Tunisian patients.

Methods: Demographic data, pattern of alopecia, age of onset, and associations were evaluated in 204 patients from January 2012 to June 2016.

Results: Two hundred and four cases of AA were seen. The male to female ratio was 0.68. The mean age at presentation was 23 years old. Positive family history was noticed in 22.1% of patients. Personal history of atopy was associated with AA in 18.1%. Associated autoimmune diseases were thyroid disorders (12.7%), vitiligo (1.5%), psoriasis (three cases), type 1 diabetes (two cases), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome (two cases), lichen sclerosus atrophicus (one case), and pemphigus vulgaris (one case). Patchy AA was the most common manifestation (49.5%) followed by alopecia universalis (27.5%), alopecia ophiasis (12.7%), and alopecia totalis (10.3%). Nail changes consisting of pitting, trachyonychia, and longitudinal ridging were reported in 24.8%. AA patterns were more severe in females (P = 0.049). Severe forms showed more persistent disease duration (P = 0.005), earlier onset (P = 0.001), and more recurring episodes (P = 0.002) and were significantly associated with nail involvement (P < 0.001).

Conclusions: Our study aimed to review epidemio-clinical characteristics and comorbid conditions of AA in Tunisian patients. More severe cases with a pejorative value of early-onset AA, long disease duration, and nail involvement were seen in our study.
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http://dx.doi.org/10.1111/ijd.14381DOI Listing
July 2019

Amelanotic melanoma arising in an area of SLURP-1 mutated Mal de Meleda.

Int J Dermatol 2019 Aug 23;58(8):966-968. Epub 2018 Sep 23.

Dermatology Department, Farhat Hached University Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1111/ijd.14231DOI Listing
August 2019

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

J Invest Dermatol 2018 02 28;138(2):291-300. Epub 2017 Sep 28.

Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore. Electronic address:

Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients. We found that this mutation, like those causing dominant Cole disease, impairs homodimerization of the ENPP1 enzyme that is mediated by its two somatomedin-B-like domains. Histological analysis revealed structural and molecular changes in affected skin that were likely to originate from defective melanocytes because keratinocytes do not express ENPP1. Consistently, RNA-sequencing analysis of patient-derived primary melanocytes revealed alterations in melanocyte development and in pigmentation signaling pathways. We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily affecting the melanocyte lineage, cause a clinical spectrum of dyschromatosis, in which the p.Cys120Arg allele represents a recessive and more severe form of Cole disease.
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http://dx.doi.org/10.1016/j.jid.2017.08.045DOI Listing
February 2018

[A particular type of cicatricial Pemphigoid with unique IgA deposit].

Pan Afr Med J 2017 13;26:136. Epub 2017 Mar 13.

Université de Sousse, Tunisie.

Cicatricial Pemphigoid is a subepithelial bullous dermatosis which essentially involves the mucous membranes with cicatricial evolution We report the case of a 66-year old patient hospitalized with erosive gingivitis associated with dysphagia, dyspnea and blurred vision. Dermatologic examination showed erosive lesions involving the palate and the pharynx. Ophthalmologic examination showed symblepharons, ectropion and bilateral cataract. Gingival biopsy revealed a necrotic detachment of the buccal epithelium. Direct immunofluorescence showed linear IgA deposit at the dermo-epidermal junction. Indirect immunofluorescence test was negative. The diagnosis of cicatricial pemphigoid was confirmed. Esophagogastroduodenoscopy objectified double stenosis of the esophagus. Nasopharyngeal and bronchial endoscopy showed ulceration of the epiglottis, hypopharynx, pharynx and bronchial tree. The patient was treated with Solumedrol bolus corresponding to 0.5mg/kg/day prednisone associated with 100mg/day disulone. The patient showed a favorable early clinical outcome complicated because of the aggravation of dysphagia and esophageal stenosis after 2 months. Our case study is singular due to the occurrence of a cicatricial pemphigoid in a male patient with a serious clinical picture due to lesions extending to conjunctival, oral, nasal, esophageal and bronchial mucous membranes associated with direct immunofluorescence only showing IgA deposit.
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http://dx.doi.org/10.11604/pamj.2017.26.136.9702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429461PMC
June 2017

[Dermatologic complications of long-term hydroxyurea therapy].

Therapie 2017 Jun 10;72(3):391-394. Epub 2016 Nov 10.

Service de dermatologie et de vénéréologie, hôpital universitaire Farhat Hached, 4000 Sousse, Tunisie.

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http://dx.doi.org/10.1016/j.therap.2016.05.009DOI Listing
June 2017

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Cell 2016 Sep;167(1):187-202.e17

Laboratory of Human Cytogenetic, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Rue Ibn El Jazzar, 4000 Sousse, Tunisia.

Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles that predispose to inflammasome activation. Mechanistically, NLRP1 mutations lead to increased self-oligomerization by disrupting the PYD and LRR domains, which are essential in maintaining NLRP1 as an inactive monomer. Primary keratinocytes from patients experience spontaneous inflammasome activation and paracrine IL-1 signaling, which is sufficient to cause skin inflammation and epidermal hyperplasia. Our findings establish a group of non-fever inflammasome disorders, uncover an unexpected auto-inhibitory function for the pyrin domain, and provide the first genetic evidence linking NLRP1 to skin inflammatory syndromes and skin cancer predisposition.
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http://dx.doi.org/10.1016/j.cell.2016.09.001DOI Listing
September 2016

H syndrome with histological features of Langerhans cell histiocytosis.

Indian J Dermatol Venereol Leprol 2016 Nov-Dec;82(6):702-704

Department of Dermatology, Anatomy and Cytology, Farhat Hached Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.4103/0378-6323.185044DOI Listing
May 2017

Hemophagocytic lymphohistiocytosis: an unusual complication of leprosy.

Int J Dermatol 2015 Sep 20;54(9):1054-9. Epub 2015 Jun 20.

Department of Dermatology, Farhat Hached Hospital, Sousse, Tunisia.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare condition of chaotic uncontrolled immune system stimulation and not fully understood pathophysiology. Most reported cases of hemophagocytic syndrome in patients with mycobacterial infections have been associated with Mycobacterium tuberculosis. As far as we could ascertain, to date, no established HLH case complicating leprosy has been published in the medical literature.

Case Report: We describe here a new case of Hansen's disease in a 58-year-old Tunisian man with an unusual complicated clinical course documented as hemophagocytic syndrome. Cutaneous and neurological involvements were the main clinical signs of Hansen's disease. Histological findings suggested the diagnosis of leprosy and were somewhat more characteristic of the lepromatous leprosy type. While on antileprosy treatment, he developed unexplained persistent fever, organomegaly, bicytopenia, and elevated rate of inflammatory markers with bone marrow aspirate showing large macrophages with increased phagocytosis of mature and immature blood elements, typical features of hemophagocytic syndrome.

Conclusion: A high index of suspicion is essential for prompt diagnosis of hemophagocytic syndrome in the setting of disseminated infection such as leprosy.
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http://dx.doi.org/10.1111/ijd.12792DOI Listing
September 2015

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

J Invest Dermatol 2015 Jan 22;135(1):304-308. Epub 2014 Jul 22.

Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, Singapore, Singapore; Department of Paediatrics, National University of Singapore, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269804PMC
January 2015

IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.

J Invest Dermatol 2014 Apr 11;134(4):1155-1157. Epub 2013 Nov 11.

Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.480DOI Listing
April 2014

Deep dermatophytosis and inherited CARD9 deficiency.

N Engl J Med 2013 Oct 16;369(18):1704-1714. Epub 2013 Oct 16.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 980 Necker Medical School, Imagine Institute and University Paris Descartes, Sorbonne Paris Cité (F.L., Q.B.V., L.L., M.M., L.A., J.-L.C., C. Picard, A.P.), Infectious Diseases and Tropical Medicine Unit (F.L., O.L.) and Pediatric Hematology-Immunology Unit (J.-L.C.), Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), and University Paris Descartes, Dermatology Unit (H.B.) and Skin Research Institute (L.M.), INSERM Unité 697, Saint Louis Hospital, INSERM Unité 781, Necker-Enfants Malades Hospital (H.B.), Human Histopathology and Animal Models, Infection and Epidemiology Department (G.J., F.C.), and the National Reference Center for Invasive Mycoses and Antifungals, Molecular Mycology Unit (O.L.), Institut Pasteur, and the Pathology Unit (S.F.), Microbiology Unit (M.-E.B.), and Study Center for Immunodeficiency (C. Picard), Necker-Enfants Malades Hospital, AP-HP - all in Paris; University College London, Royal Free Hospital (S.P., B. Grimbacher) and International Foundation for Dermatology, Willan House (R.H.), London; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York (S.C., C. Prando, L.A., J.-L.C.); the Dermatology Unit, Mustapha Hospital and Faculty of Medicine, Algiers (L.T., A.A.-K.), the Dermatology Unit, Dr. T. Damerdji Tlemcen Hospital and Aboubakr Belkaid University, Tlemcen (O.B.S., M.B.), and the Dermatology Unit, Hassani Abdelkader Hospital, and Faculty of Medicine, Djillali Liabes University, Sidi Bel-Abbes (B. Guellil) - all in Algeria; the Infectious Diseases Unit (F.J., J.-C.G., K.S.) and Dermatology Unit (V.M.), Erasme Hospital, Brussels; the Dermatology Unit, Farhat Hached Hospital, Sousse, Tunisia (L.B., M.D., M.L.); the Molecular Immunogenetics Unit, National Center for Scientific Research, UPR 1142, Institute of Human Genetics, and University Montpellier 2, Montpellier, France (G.L.); and the Center for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany (B. Grimbacher).

Background: Deep dermatophytosis is a severe and sometimes life-threatening fungal infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous tissue invasion and by frequent dissemination to the lymph nodes and, occasionally, the central nervous system. The condition is different from common superficial dermatophyte infection and has been reported in patients with no known immunodeficiency. Patients are mostly from North African, consanguineous, multiplex families, which strongly suggests a mendelian genetic cause.

Methods: We studied the clinical features of deep dermatophytosis in 17 patients with no known immunodeficiency from eight unrelated Tunisian, Algerian, and Moroccan families. Because CARD9 (caspase recruitment domain-containing protein 9) deficiency has been reported in an Iranian family with invasive fungal infections, we also sequenced CARD9 in the patients.

Results: Four patients died, at 28, 29, 37, and 39 years of age, with clinically active deep dermatophytosis. No other severe infections, fungal or otherwise, were reported in the surviving patients, who ranged in age from 37 to 75 years. The 15 Algerian and Tunisian patients, from seven unrelated families, had a homozygous Q289X CARD9 allele, due to a founder effect. The 2 Moroccan siblings were homozygous for the R101C CARD9 allele. Both alleles are rare deleterious variants. The familial segregation of these alleles was consistent with autosomal recessive inheritance and complete clinical penetrance.

Conclusions: All the patients with deep dermatophytosis had autosomal recessive CARD9 deficiency. Deep dermatophytosis appears to be an important clinical manifestation of CARD9 deficiency. (Funded by Agence Nationale pour la Recherche and others.).
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http://dx.doi.org/10.1056/NEJMoa1208487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4084693PMC
October 2013

Co-amoxiclav-induced Stevens Johnson syndrome in a child.

Pan Afr Med J 2013 27;14:38. Epub 2013 Jan 27.

Department of Clinical Pharmacology, Faculty of Medicine of Sousse, Tunisia.

Stevens-Johnson syndrome is an uncommon life threatening disease generally induced by drugs. Antibiotics, mainly sulphonamides, are the most involved drugs in Stevens-Johnson syndrome in children. Co-amoxiclav is a well tolerated antibiotic. It has never been reported to cause, lonely this syndrome in children. Herein, we report a co-amoxiclav-induced Stevens-Johnson syndrome occurring in an 18-month-old child. The diagnosis of SJS is often challenging in children and other possible diseases should be ruled out. The etiology of this syndrome is not yet fully understood. It is thought to be mediated by an immunologic mechanism. Management involves early identification, withdrawal of the culprit drug and rapid initiation of supportive therapies.
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http://dx.doi.org/10.11604/pamj.2013.14.38.1408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612873PMC
September 2013

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Nat Genet 2012 Nov 14;44(11):1272-6. Epub 2012 Oct 14.

Centre for Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry & Nursing, University of Dundee, UK.

Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics. Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and soles with considerable heterogeneity. In 18 families with autosomal dominant punctate PPK, we report heterozygous loss-of-function mutations in AAGAB, encoding α- and γ-adaptin-binding protein p34, located at a previously linked locus at 15q22. α- and γ-adaptin-binding protein p34, a cytosolic protein with a Rab-like GTPase domain, was shown to bind both clathrin adaptor protein complexes, indicating a role in membrane trafficking. Ultrastructurally, lesional epidermis showed abnormalities in intracellular vesicle biology. Immunohistochemistry showed hyperproliferation within the punctate lesions. Knockdown of AAGAB in keratinocytes led to increased cell division, which was linked to greatly elevated epidermal growth factor receptor (EGFR) protein expression and tyrosine phosphorylation. We hypothesize that p34 deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation.
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http://dx.doi.org/10.1038/ng.2444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3836166PMC
November 2012

Acetaminophen-induced cellulitis-like fixed drug eruption.

Indian J Dermatol 2011 Mar;56(2):206-8

Department of Clinical Pharmacology, Faculty of Medicine of Sousse, Sousse, Tunisia.

Acetaminophen is a widely used analgesic drug. Its adverse reactions are rare but severe. An 89-year-old man developed an indurated edematous and erythematous plaque on his left arm 1 day after acetaminophen ingestion. Cellulitis was suspected and antibiotictherapy was started but there was no improvement of the rash; there was a spectacular extension of the lesion with occurrence of flaccid vesicles and blisters in the affected sites. The diagnosis of generalized-bullous-fixed drug eruption induced by acetaminophen was considered especially with a reported history of a previous milder reaction occurring in the same site. Acetaminophen was withdrawn and the rash improved significantly. According to the Naranjo probability scale, the eruption experienced by the patient was probably due to acetaminophen. Clinicians should be aware of the ability of acetaminophen to induce fixed drug eruption that may clinically take several aspects and may be misdiagnosed.
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http://dx.doi.org/10.4103/0019-5154.80419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108524PMC
March 2011

[A large temporal tumor].

Ann Pathol 2008 Dec 20;28(6):514-6. Epub 2008 Nov 20.

Service de Dermatologie, Faculté de Médecine Ibn Jazzar, CHU Farhat-Hached, 4002 Sousse, Tunisie.

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http://dx.doi.org/10.1016/j.annpat.2007.12.002DOI Listing
December 2008

[Cutaneous necrosis of the elbow].

Presse Med 2009 May 2;38(5):856-9. Epub 2008 Dec 2.

Service de dermatologie- Hôpital Habib Thameur, Tunis, Tunisie.

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http://dx.doi.org/10.1016/j.lpm.2008.10.012DOI Listing
May 2009

Netherton's syndrome: the importance of eyebrow hair.

Dermatol Online J 2007 Jul 13;13(3):21. Epub 2007 Jul 13.

Department of Dermatology, Farhat Hached Hospital, 4002 Sousse, Tunisia.

Netherton's syndrome (NS) is a rare autosomal recessive disease associated with variable expressions: congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, specific hair shaft defects (trichorrhexis invaginata) and atopic diathesis. We report the case of 14-year-old non-identical twins whose diagnosis of NS was established on light microscopy of eyebrow hairs. The sisters consulted for a severe episode of atopic dermatitis. Skin examination revealed an ichthyosiform eruption with generalized, polycyclic erythematous plaques with fine double-edged scaling. The flexural creases were lichenified and multiple eczematoid patches were noted. Blood investigation revealed eosinophilia and high IgE level. Microscopy of scalp hair of the twins was repeatedly normal, but the one of the eyebrows revealed typical trichorrhexis invaginata. The presence of trichorrhexis invaginata is necessary to make the diagnosis of NS, but its identification can be difficult because this defect is variable in time and localization. The examination of eyebrow hairs is especially beneficial for patients first seen in late childhood and adults.
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July 2007