Bartłomiej Wawrzycki

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient

BACKGROUND Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature. OBJECTIVES To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis. MATERIALS & METHODS A 16-year-old male presented with typical clinical features of IFAP, along with psoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities and chorea-like movements. DNA analysis was performed in the patient and his clinically unaffected mother, maternal grandmother and sisters. RESULTS A novel missense mutation p.Cys334Tyr (c.1001G>A) was found in exon 8 of the MBTPS2 gene. This mutation was also found in his clinically unaffected mother and maternal grandmother, but not his healthy sisters. CONCLUSIONS This patient with IFAP, the first described from Poland, is original by virtue of its extensive skeletal, cutaneous and neurologic manifestations and the novel missense mutation of the MBPTS2 gene. The identification of a novel mutation further expands the known MBPTS2 molecular repertoire and the spectrum of associated clinical findings.

THERAPEUTIC HOTLINE: Primary cutaneous CD4 + small/medium-sized pleomorphic T cell lymphoma coexisting with myelodysplastic syndrome transforming into chronic myelomonocytic leukemia successfully treated with cyclophosphamide

Cutaneous T cell lymphomas other than mycosis fungoides, Sezary syndrome, and primary cutaneous CD30+ lymphoproliferations constitute less than 10% of all cutaneous T cell lymphomas. Primary cutaneous small/medium CD4+ T cell lymphoma is a member of this third group of cutaneous lymphomas, separated out as provisional entity in the World Health Organization classification – European Organization for Research and Treatment of Cancer (WHO‐EORTC) classification. It still awaits development of more precise diagnostic criteria and optimal therapy.

Cutaneous larva migrans syndrome: a case report.

Cutaneous larva migrans (CML) is a frequent parasitic infestation caused by migration of animal hookworm larvae into the human epidermis. This skin disease is common in warmer climates among people, who have contact with contaminated soil. Clinical manifestation of CML is an itchy, erythematous, linear tract, which appears days to even months after exposure to infested sand or soil. Diagnosis is established on the clinical presentation. We describe a case of CML acquired during a holiday in Brazil.

Eruption of palmoplantar pustular psoriasis in patient treated with anti-androgen therapy for prostate cancer and aggravation of lesions after statin treatment

The article focuses on the eruption of palmoplantar pustular psoriasis, which was documented in a 53-year-old man diagnosed with prostate cancer with bone metastases. This clinical finding was made during routine hormone therapy and palliative radiotherapy. The local improvement in skin lesions was achieved following administration of topical ointments and the use of UVA 311 nm radiation therapy. The management of prostate cancer in this subject resulted in malaise, onset of diabetes mellitus and increased concentration of serum lipids. Interestingly, a few days after the statin treatment was initiated, the intensive pustule eruption was observed as well as severe pain and burning sensation in the palms and soles. The dermatological treatment led to significant improvement. The patient is still receiving oncological therapy and is monitored by dermatologists on a regular basis.

Case report Cutaneous larva migrans syndrome: a case report

Cutaneous larva migrans (CML) is a frequent parasitic infestation caused by migration of animal hookworm larvae into the human epidermis. This skin disease is common in warmer climates among people, who have contact with contaminated soil. Clinical manifestation of CML is an itchy, erythematous, linear tract, which appears days to even months after exposure to infested sand or soil. Diagnosis is established on the clinical presentation. We describe a case of CML acquired during a holiday in Brazil.

Infantile bullous pemphigoid successfully treated with combined pulse corticosteroids and high-dose IVIG

Bullous pemphigoid is the most common autoimmune blistering disorder in the elderly. It affects people aged 70 years or older. Clinically it is characterized by intensely pruritic eruption consisting of widespread tense blisters on an erythematous background. It is associated with cellular and humoral responses against hemidesmosomal components of the skin and mucous membranes. In contrast, infantile bullous pemphigoid is exceedingly rare disease and presents with some unique features like favorable prognosis, possible association with vaccination, and primary involvement of acral surfaces. Herein, we present a case of 4,5‐month‐old infant with neonatal pemphigoid, successfully treated with a combination of intravenous immunoglobulins and pulse methylprednisolone.

Interleukin-22 and Its Correlation with Disease Activity in Plaque Psoriasis

Psoriasis is a chronic debilitating skin disease with an estimated prevalence reaching 2% of the worldwide population. Psoriatic disease is driven by a network of complicated reciprocal interactions among innate and adaptive mechanisms of immune system with structural components of the skin. Interleukin (IL)-22 mediates keratinocyte proliferation and epidermal hyperplasia, inhibits terminal differentiation of keratinocytes, and induces the production of antimicrobial proteins. The aim of this study was the assessment of IL-22 levels and its correlation with disease activity in plaque psoriasis. The study group included 64 patients with mild, moderate and severe psoriasis. Control group was composed of 24 sex- and age-matched healthy volunteers. IL-22 concentration was assessed in supernatants of T-cell cultures as well as in the plasma of study and control group with the use of ELISA method. Statistical analysis showed that concentration of IL-22 in cultures exposed to staphylococcal enterotoxin B was significantly higher than in control samples (p = 0.005) and cultures treated with IL-12 (p = 0.005). Patients with psoriasis presented significantly higher concentrations of IL-22 than healthy individuals (p = 0.0000001). In conclusion, IL-22 may collaborate with other soluble factors and cells together forming inflammatory circuits that otherwise exist as constitutive or inducible pathways in normal skin and become pathologically amplificated in psoriasis. Targeting IL-22 may be promising as a potential therapeutic for plaque psoriasis.

Serum concentration of interleukin 6 is related to inflammation and dyslipidemia in patients with psoriasis

Introduction Patients with psoriasis and psoriatic arthritis (PsA) have metabolic disturbances, which may be due to chronic inflammation. Aim Because interleukin-6 (IL-6) regulates both metabolic and inflammatory processes, we evaluated IL-6 as a potential marker of inflammation and metabolic disturbances in psoriasis. Material and methods This study involved 93 patients with psoriasis, including 31 patients with concurrent PsA. We investigated whether serum markers of lipid metabolism and inflammation, including IL-6, were related to each other and to disease activity. Results We found that concurrent PsA was associated with higher serum concentrations of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and IL-6. In patients with psoriasis alone, the IL-6 serum concentration correlated positively with the concentrations of TC and LDL-c and with erythrocyte sedimentation rates (ESRs). Moreover, IL-6 concentrations tended to correlate positively with the percentage of the body area affected by psoriatic lesions. Among all patients, those with normal blood lipids had lower ESRs and IL-6 concentrations than patients with abnormal blood lipids. A logistic regression model showed that PsA, Psoriasis Area Severity Index (PASI), and ESR were significant predictors of the serum IL-6 concentration. Conclusions Interleukin-6 may be an indicator of inflammatory activity in psoriasis. Moreover, IL-6 may be related to lipid abnormalities in patients with this disease.

Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

Address for correspondence: Agata A. Filip, Department of Cancer Genetics, Medical University of Lublin, 11 Radziwiłłowska St, 20-080 Lublin, Poland, phone/fax: +48 81 448 61 00, e-mail: aafilip@hotmail.com Received: 4.01.2018, accepted: 6.01.2018. Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

Ulcerative colitis accompanied by aseptic abscesses syndrome and small-vessel vasculitis

Introduction. Cutaneous small-vessel vasculitis and aseptic abscesses syndrome are among the rarest extraintestinal manifestations of bowel inflammatory diseases. Materials and methods. The study describes the case of a 19-year-old female admitted to the Department of Dermatology due to cutaneous small-vessel vasculitis. In order to reach the final diagnosis, a wide spectrum of laboratory and diagnostic tests were performed. Three subsequent abdominal CT scans confirmed the presence of hypodense foci, initially in the spleen, and subsequently in the liver. The aseptic abscesses syndrome was diagnosed based on the radiological picture and the exclusion of infectious causes of the above-described foci. Objective. Presentation of a case of concomitance of cutaneous small vessel vasculitis and septic absecess, accompanied by inflammatory bowel disease. Results. During the hospitalisation, the patient developed symptoms of paralytic ileus. The results of colonoscopy and biopsy of intestinal mucous membrane were typical of ulcerative colitis. Conclusions. To the best of the authors’ knowledge, this is the first presentation of ulcerative colitis accompanied by aseptic abscesses syndrome concomitant with cutaneous small vessel vasculitis.