Birt Hogg Dube syndrome: Rare family lung disease.

Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas. It was first described in 1977 by Birt et al. In this case report, a patient who was diagnosed with symptoms and his first degree relative is presented. Diseases that should be considered in differential diagnosis are discussed. The diagnosis of this disease is usually made after recurrent pneumothorax. Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized.

Langerhans cell histiocytosis: A rare cause of pathological rib fracture.

Langerhans cell histiocytosis, formerly known as histiocytosis X, represents clonal proliferations of the antigen-presenting dendritic cells, which are normally found in many organs. It is a rare disease which tends to affect children and adolescents. In particular, adult-onset type is very rare. Herein, we present a female adult diagnosed with Langerhans cell histiocytosis of the rib without any systemic involvement which was successfully treated with surgery.

Skin Cancers of the Auricle: A Retrospective Analysis of 41 Patients.

OBJECTIVE: Skin cancers of the auricle usually present with challenges because of the unique anatomy and topography of the auricle and the behavior of the tumor. The purpose of this study was to evaluate the clinical and histopathological characteristics and the surgical outcomes in patients with skin cancer of the auricle. METHODS: Medical records of patients who underwent surgery for a skin cancer of the auricle at two different tertiary medical centers during 2010 to 2020 were reviewed retrospectively. Sociodemographic data of patients, tumor location and size, histopathological type and subtype, T-stage, recurrence, and reconstructive technique were evaluated. RESULTS: The study included 41 patients with skin cancers of the auricle. Thirty-six (87.8%) were male and five (12.2%) were female; with a male-to-female ratio of 7.2:1. The mean age of the patients was 71.4 (46-92) years. Eighteen (43.9%) tumors were basal cell carcinoma (BCC) and 17 (41.5%) tumors were cutaneous squamous cell carcinoma (cSCC). The most common subunit for tumor location was the helix (n=17, 41.5%). Wedge resection plus primary closure was the most common surgical technique (58.5%). Recurrent disease was detected in five patients (12.1%). CONCLUSION: The frequency of the skin cancers of the auricle was remarkably high in men, and the helix was the most common subunit. Both BCC and cSCC were the most common histopathological types. Poor prognostic factors such as lymph node metastasis, perineural invasion, and recurrence were relatively common in patients with cSCC of the auricle.

Successful treatment of severe refractory post-cesarean pyoderma gangrenosum with intravenous immunoglobulin.

Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis characterized by rapidly progressing necrolytic ulceration of the skin. Proper treatment is crucial since it can result in devastating consequences. First-line treatments include systemic corticosteroids or cyclosporine. However, no standardized treatment regimens for refractory cases exist and treatment outcomes are affected by underlying conditions. PG after cesarean section, which is believed to occur in association with underlying pregnancy- and parturition-related immune changes, is extremely rare, and all reported cases in the literature have been successfully treated with systemic or topical corticosteroids. We report a case of a 32-year-old patient with severe PG occurring on her cesarean scar 3 days after the cesarean delivery. Treatment with systemic corticosteroids and first-line immunomodulatory agents resulted in insufficient response and serious complications. Intravenous immunoglobulin (IVIG) was then initiated, and a rapid clinical response was seen. Corticosteroid dose was gradually decreased and ceased. IVIG infusion was continued for 3 months until complete recovery. Reactivation was not observed in a 1-year follow-up period. Due to its cost, IVIG infusion is less suitable as a first-line agent. However, IVIG may be an important therapeutic option in resistant postpartum PG, in which first-line agents have failed or led to complications.

Dermoscopic clues of palmoplantar hyperkeratotic eczema and palmoplantar psoriasis: A prospective, comparative study of 90 patients.

Diagnosis can be difficult in isolated palmar and plantar lesions in patients with psoriasis and eczema. The purpose of our study is to compare the dermoscopic findings in patients with palmoplantar psoriasis and palmoplantar hyperkeratotic eczema. This prospective, comparative study included 90 patients histopathologically diagnosed with eczema or psoriasis (35 psoriasis and 55 eczema). The age range was 18-75 years. The most common vessel type was dot vessel in psoriasis. Red globular ring vessels were seen in five patients with psoriasis, but not in any with eczema (P = 0.007). The most common vascular distribution pattern was regular in psoriasis (40%). Patchy vascular pattern was significant in eczema. The most common background color was light red in psoriasis (48.6%) (P < 0.001). Brownish-orange globules were observed in 25.7% of patients with eczema and 5.7% in patients with psoriasis (P = 0.02). There is only one study in the published work about dermoscopy of palmoplantar psoriasis and eczema. In our study, yellow crusts, patchy scale distribution, patchy vascular pattern, yellow scale color, dull red background color and brownish-orange globules were significant in patients with palmoplantar eczema. On the other hand, patients with psoriasis had light red background color, regular vascular distribution pattern and white scale color. We observed globule structures with a pale center and dark peripheral rim only in patients with eczema, which was not identified in previous studies. This globule structure may be a new finding in eczema.

Clinicopathological characteristics and mutation profile of BRAF and NRAS mutation in cutaneous melanomas in the Western Turkish population

Background/aim: Malignant melanoma is the most common cause of death due to skin cancers. The most common mutations in RAFRAS pathway from tumor oncogenes are BRAF and NRAS. In this study, we analyzed the frequency of BRAF and NRAS gene mutations and investigated their association with clinicopathological features of melanomas in the Turkish population. Materials and methods: 65 primary cutaneous melanoma were included in the study. The mutations were evaluated with real-time PCRbased PCR-array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. Results: 52.3% of the patients were female and 47.7% were male. The mean age of the patients with a mutation was lower than those without mutation. 16 patients had BRAF mutation. 12 patients had NRAS mutation. NRAS mutation was statistically more common in men (P = 0.036). The number of mitoses increased with the increase of the tumor thickness (P = 0.003). There was more mitosis in the presence of ulceration (P = 0.05). A total of 41.7% of NRAS mutations had adjuvant chemotherapy. Conclusion: We found lower mutation rate when compared to regional studies. NRAS mutation was common in men. This is the first study from our region evaluating the prognostic value of clinical stage and necessity of adjuvant treatment with the presence of BRAF and NRAS mutations.

Malignant tumor of outer root sheath epithelium, trichilemmal carcinoma. Clinical presentations, treatments and outcomes.

OBJECTIVES: To emphasize different clinical features of tumor that can be misdiagnosed clinically. METHODS: A total of 8 cases operated between September 2009 and 2016 at the Celal Bayar University, Faculty of Medicine were included in the study. Patients' clinicopathological features, type of surgery and follow up information were evaluated. Results: Six patients were male. The average age was 75.50. The lesions were located on the head and neck, and chest wall. Six patients had a history of the rapid growth of lesion. There was no metastasis at the time of diagnosis. None of the patients needed adjuvant therapy. Mean follow up time was 19.37 months. None of the patients developed recurrence or metastasis. Conclusion: This tumor resembles basal or squamous cell carcinoma. The histopathological evaluation may lead to misdiagnosis. Regional or distant metastasis is very rare. There is no consensus about adjuvant therapy. Screening for metastasis and close follow up are mandatory.