Ayşen Karaduman

MEFV mutations in Behçet's disease.

Familial Mediterranean fever (FMF) and Behçets disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the major histocompatibility complex. Because FMF and BD have epidemiological similarities, we asked whether the FMF gene was implicated in BD. We screened for the common MEFV mutations a cohort of 114 chromosomes from definite BD patients [meeting the criteria of the International study group] and probable cases [meeting at least two of these criteria]. We screened in parallel an ethnically matched cohort of FMF and control chromosomes. The M694V, V726A and E148Q mutations tended to be more frequent in definite BD (2.6%, 2.6%, and 5.2%, respectively) than in controls (0%, 0%, and 2.2%). The P706 polymorphism was found in 10.5% of the probable BD chromosomes, but in only 1.6% of the controls (p=0.01). Because some MEFV mutations were more frequent in BD than in controls, we suggest that they may act as additional susceptibility factors in BD. Hum Mutat 16:271–272, 2000.

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). A first gene for LI, transglutaminase TGM1, has been identified on chromosome 14, and a second one has been localized on chromosome 2. In a genomewide scan of nine large consanguineous families, using homozygosity mapping, two new loci for ARI were found, one for a lamellar form in a 6-cM interval on chromosome 19 and a second for an erythrodermic form in a 7.7-cM interval on chromosome 3. Linkage to one of the four loci could be demonstrated in more than half of 51 consanguineous families, most of them from the Mediterranean basin. All four loci could be excluded in the others, implying further genetic heterogeneity in this disorder. Multipoint linkage analysis gave maximal LOD scores of 11.25 at locus D19S566 and 8.53 at locus D3S3564.

No additional effect of topical calcipotriol on narrow-band UVB phototherapy in patients with generalized vitiligo.

Background/Purpose: There is no definite cure for vitiligo; however, treatment responses with photobiological modalities are quite acceptable. Of all these, narrow‐band UVB phototherapy was proposed rather recently. Calcipotriol has been shown to have stimulating activity on melanogenesis besides immunomodulatory and anti‐inflammatory effects. This study was performed to determine whether adding topical calcipotriol to narrow‐band UVB phototherapy enhances the efficacy of treatment.

Cutaneous mastocytosis : demographic aspects and clinical features of 55 patients

Background  Mastocytosis is a rare, heterogeneous group of disorder with abnormal increase of mast cells in one or more organ systems.

The effect of maintenance narrow-band ultraviolet B therapy on the duration of remission for psoriasis: a prospective randomized clinical trial

Background  Narrow‐band (311 nm) UVB is an effective treatment modality for moderate to severe psoriasis. The effect of maintenance narrow‐band UVB on the duration of remission is unknown.

An unusual form of generalized granuloma annulare in a patient with insulin-dependent diabetes mellitus.

The generalized form of granuloma annulare may be associated with systemic disorders, including diabetes mellitus. We describe here an unusual form of generalized granuloma annulare in a patient with complicated insulin-dependent diabetes mellitus. The cutaneous eruption had been present for decades as non-pruritic, persistent, violet-brown patches with raised edges. There were flexion deformities of the small joints of the hands and feet associated with thickening of the skin over dorsa of the fingers. The patient is currently on isotretinoin therapy, with partial resolution of lesions at 3 months follow-up.

A case of lupus vulgaris successfully treated with antituberculous therapy despite negative PCR and culture

A 14-year-old boy presented with a pink firm plaque with well-defined borders in the right infra-orbital skin area. On diascopy, the infiltrate exhibited a typical apple-jelly appearance. No acid-fast bacilli could be demonstrated. A polymerase chain reaction (PCR) assay did not reveal the presence of mycobacteria in a lesional biopsy sample. Culture of biopsied tissue on Loewenstein-Jensen medium was negative. Although the tuberculosis culture and PCR did not confirm tuberculosis, a diagnosis of lupus vulgaris was made considering the clinical and histopathological findings. After a 9-month antituberculous therapy, the lesion disappeared. We believe that a diagnosis of lupus vulgaris still depends more on clinical and histopathological findings than on tuberculosis culture or PCR.

PUVA treatment of vitiligo: a retrospective study of Turkish patients

Background Psoralen plus ultraviolet A (PUVA) is considered to be the treatment of choice for subtotal vitiligo; however, it is time consuming and carries certain health risks for both patients and physicians. This study attempts to evaluate the efficacy of the treatment in Turkish vitiligo patients.

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids in various types of cells. Recently, mutations of the ABHD5 gene were identified as the cause of CDS. In this work, we carried out molecular analysis of the ABHD5 gene in 6 unrelated patients. We identified one previously reported mutation, N209X and two novel genetic alterations; a nonsense mutation (p.Y50X) and missense mutation (p.S73A).

Sweet's syndrome and erythema nodosum: a companionship or a spectrum?--a case report with review of the literature.

A 47-year-old woman presented to the emergency department with an eruption of 4 days’ duration. The eruption started on the face, neck, and hands. Later, lesions appeared on the arms and legs, accompanied by arthralgia. She had a 9-day history of an upper respiratory tract infection for which she was prescribed levofloxacin and acetaminophen. She recalled that she had also used dipyrone during the prodromal phase of the infection. In addition, she had suffered from vitiligo for 20 years, together with hypertension, hyperlipidemia, and fibromyalgia. Dermatologic examination revealed the following: on the face, ears, and ‘V’ region and back of the neck, erythematous and highly edematous papules and plaques, some of which were pseudovesicular (Fig. 1); at the extensor surfaces of the arms, erythematous, pustular papules and plaques with some dusky red centers, resembling target lesions; at the dorsal and palmar surfaces of the hands, painful, highly edematous plaques, some of which were also targetoid, and multiple separate tiny pustules; at the anterior aspects of the legs, 10–20 pale, erythematous, painful, indurated nodules (Fig. 2), accompanied by similar lesions on the sides of the thighs and on the dorsum of the left foot. All other aspects of the dermatologic examination, including the oral mucosa, scalp, and nails, were normal, except for the depigmented macules and patches on the dorsal surfaces of the hands and volar surfaces of the wrists, which were consistent with vitiligo. The rest of the physical examination was normal. There was no lymphadenopathy. The liver function tests were normal. She had leukocytosis [20.6 · 10/L; normal, (4–10) · 10/L], with a neutrophilic predominance of 78% in the peripheral smear, and an elevated C-reactive protein level (5.35 mg/ dL; normal, 0–0.8 mg/dL) and sedimentation rate (96 mm/h; normal, 0–20 mm/h). She had anemia with a hemoglobin level of 10 g/dL (normal, > 12 g/dL for females). She was hospitalized and systemic corticosteroid therapy was initiated with the clinical diagnosis of Sweet’s syndrome. All samples, including an excisional skin biopsy obtained from one of the lesions on the leg and punch biopsies taken from the neck and from one of the