Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5. Although the typical skin finding of CDS syndrome is reported as non-bullous congenital ichthyosiform erythroderma, CDS should also be in the differential diagnosis in patients with EKV-like lesions.

Investigation of the Effect of Mobile and Immobile Regions on Fat Graft Viability: An Experimental Study in a New Model.

BACKGROUND: Fat grafts are widely used in plastic, aesthetic and reconstructive surgery. Their unpredictable resorption is their main disadvantage. A review of the literature shows that there is a lack of research on the effect of mobile and immobile regions on fat graft survival in fat graft applications. OBJECTIVE: Our aim was to investigate the relationship of fat graft survival with mobile and immobile region in a new experimental model. METHODS: Twenty-four male Wistar albino rats were randomly divided into two groups (n=12). Fat grafts were harvested from the right inguinal region of the rat. In Group 1, the fat graft was placed in the subcutaneous pouch formed in the scalp region of the rat. In Group 2, fat grafts were placed in the pouch formed in the posterior cervical region of the rat. At the end of 6 weeks, the weights and histopathology of the fat grafts were evaluated. Histopathological examinations were performed in a blinded fashion. RESULTS: The weights of the fat grafts were found to be higher in Group 1. At the same time, histopathological examinations showed that vascular density was higher in Group 1. There was no statistically significant difference in other histopathological examinations. CONCLUSION: The mobile and immobile areas may have different effects on the survival of transplanted fat grafts. Sliding movement between muscle and skin in the mobile zone puts stress on the fat graft. In our study, the mobile site was shown to have a negative effect on the vascularity of the fat graft. It was observed that the vascular density was higher in the fat graft placed in the immobilised area. Further studies on the increase in vascularity can be carried out using the new experimental model we have created. NO LEVEL ASSIGNED: This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

The effect of human recombinant epidermal growth factor on neovascularization and pedicle division time in a rat interpolation flap model.

Background/aim: In practice, waiting 2-3 weeks for interpolation flaps pedicle division result in certain morbidities and discomfort for patient. The division time of flap pedicle depends on neovascularization from the recipient bed and includes wound healing stages. We aimed to investigate the effect of recombinant human epidermal growth factor (rhEGF) on the flap viability during early pedicle division. Materials and methods: Thirty-six rats were allocated to two main groups as control and study. A cranial based flap measuring 5 × 5 cm was elevated from the back, including all layers of the skin. While the cranial half of the defect was primarily closed, the flap was inset into the distal half. In the study group, a single dose of 20 µg EGF was injected into the recipient site and wound edges before the flap inset. The control group received no treatment. Each main group was divided into three subgroups based on pedicle division time of 8, 11 and 14 days. After pedicle division, each flap was monitored and photographed for 7 days, and histopathological samples were collected. Viable and necrotic areas were compared, and flaps were examined histopathologically. Results: The necrosis area in the study group on the 11th day was significantly lower than that in the control group. The fibroblastic activity, granulation tissue and neovascularization on the 8th day, the granulation tissue level on the 11th day, and the neovascularization level on the 14th day were significantly higher in the study groups. Conclusion: Following the application of EGF, the necrosis area decreased within the study group. Histopathological assessments revealed a statistically significant increase in parameters related to granulation tissue and fibroblastic activity, notably neovascularization, across all subgroups within the study. It was concluded that the use of EGF positively affected the neovascularization, and flaps could be divided earlier.

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.

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.

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.

[The evaluation of tumor histopathology, location, characteristic, size and thickness of nonmelanoma skin cancers of the head and neck]. / Bas ve boyun melanom disi deri kanserlerinde tümör histopatolojisi, konumu, karakteristigi, boyut ve kalinliginin incelenmesi.

OBJECTIVES: This study aims to investigate the characteristic features of tumors and relationship between features in cases who underwent surgery for nonmelanoma skin cancer (NMSC) of the head and neck. PATIENTS AND METHODS: Between December 2007 and March 2011, 106 lesions of 90 cases who underwent excision of NMSC of the head and neck in our clinic were included. The statistical analysis was performed by evaluating the demographic data, histopathologic type, size and thickness of tumor, location, Clark stage, T stage, risk of recurrence and the presence of recurrence, reconstruction technique and success rate of surgery. RESULTS: Basal cell carcinoma (BCC) was approximately two-fold more common than squamous cell carcinoma (SCC). The most common locations of tumors were the nose and lip. Most of lesions (71.7%) were at high-risk of recurrence. When the relationship of histopathologic type with the size and depth of tumor were analyzed, it was found that the size and thickness of tumor in SCC were relatively higher with a statistically significant difference. The relationship between histopathologic type and the location of tumors was also statistically significant. CONCLUSION: Basal cell carcinoma is the most common NMSC of the head and neck. Most of these cases have the potential of high rate of recurrence. The size and thickness of SCC are higher than BCC.

Staged-surgery with permanent pathology for the management of high-risk nonmelanoma skin cancer of the nose.

The objective of the study was to investigate the effect of staged-surgery with permanent pathology on tumour recurrence of high-risk nonmelanoma skin cancers (NMSCs) of the nose and to determine the factors associated with subclinical spread and deep-margin involvement. Twenty-one patients who underwent staged-surgery with permanent pathology for high-risk NMSCs of the nose between 2007 and 2008 were prospectively followed-up for tumour recurrence. The incidence of tumour recurrence after staged-surgery with permanent pathology was 0%. A positive correlation between perineural involvement and subclinical spread (p = .012); and a statistically significant relationship between infiltrative type basal cell carcinoma (BCC) and deep-margin involvement (p = .033) was detected. Staged-surgery with permanent pathology is a reliable surgical method for complete excision of high-risk NMSCs of the nose and provides a significant decrease in tumour recurrence. Perineural involvement may cause subclinical spread, and infiltrative type BCC may invade deeper structures of the nose.

Angiokeratoma circumscriptum of the tongue.

Angiokeratoma circumscriptum of the tongue is a rare mucocutaneous vascular disorder. To date, only three cases of angiokeratoma circumscriptum of the tongue have been reported in the English literature. In this article, a case with angiokeratoma circumscriptum of the tongue was presented, and all the aspects of this clinical entity including clinical evaluation, differential diagnosis, histopathological features, and treatment modalities were discussed.

Sensitivity, predictive values, pretest-posttest probabilities, and likelihood ratios of presurgery clinical diagnosis of nonmelanoma skin cancers.

BACKGROUND: The precision of clinical diagnosis of skin tumors is not commonly measured and, therefore, very little is known about the diagnostic ability of clinicians. OBJECTIVE: This study aimed to compare clinical and histopathologic diagnoses of nonmelanoma skin cancers with regard to sensitivity, predictive values, pretest-posttest probabilities, and likelihood ratios. METHODS: Two hundred nineteen patients with 241 nonmelanoma skin cancers were enrolled in this study. Of these patients, 49.4% were female and 50.6% were male. The mean age ± standard deviation (SD) was 63.66 ± 16.44 years for the female patients and 64.77 ± 14.88 years for the male patients. The mean duration of the lesions was 20.90 ± 32.95 months. One hundred forty-eight (61.5%) of the lesions were diagnosed as basal cell carcinoma (BCC) and 93 (38.5%) were diagnosed as squamous cell carcinoma (SCC) histopathologically. RESULTS: Sensitivity, positive predictive value, and posttest probability were calculated as 75.96%, 87.77%, and 87.78% for BCC and 70.37%, 37.25%, and 37.20% for SCC, respectively. The correlation between clinical and histopathologic diagnoses was found to be higher in BCC. CONCLUSION: Knowledge of sensitivity, predictive values, likelihood ratios, and posttest probabilities may have implications for the management of skin cancers. To prevent unnecessary surgeries and achieve high diagnostic accuracies, multidisciplinary approaches are recommended.

Primary cutaneous anaplastic CD30 + large-cell lymphoma that completely regressed after incisional skin biopsy.

We describe a 48-year-old woman with three erythematous nodules localized on the left forearm, with 2 months evolution. Histological and immunohistochemical examination revealed a CD30(+) large-cell lymphoma. Systemic involvement was not detected. The tumor regressed spontaneously within a week, after the incisional skin biopsy. In control skin biopsy, there was not any histological feature of lymphoma. No reactivation or any symptom of systemic disease was observed during the 10-month follow-up period.

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.

A case report of postpubertal eruptive syringoma triggered with antiepileptic drugs.

Eruptive syringoma is a rare variant of syringoma, which typically occurs in large numbers as multiple yellow-brown colored papules. It usually presents before or during puberty. The pathogenesis of eruptive syringoma is unclear. It could represent a hyperplastic response of the eccrine ducts to an inflammatory reaction caused by an unknown trigger. The association between drugs and eruptive syringoma has not been reported in the literature until now. A 34-year-old woman with multiple asymptomatic papular eruptions of nine years' duration visited the authors' outpatient clinic. She had been using antiepileptic drugs for epilepsy for 10 years. Dermatological examination revealed multiple skin-colored to brownish papules, 1-3 mm in diameter, on the trunk and neck. Skin biopsy was performed from a lesion on the neck. According to clinical and histopathological findings, the patient was diagnosed as having eruptive syringoma. This case is very interesting, because the patient had been using antiepileptic drugs for a long time and the onset of her lesions was in postpubertal period. The authors' hypothesize that her lesions occured due to antiepileptics which may be a trigger of syringomatous proliferation. The authors conclude that drugs, especially antiepileptics, should be kept in mind in reference to the etiology of eruptive syringomas.

Acute generalized exanthematous pustulosis with lymphangitis triggered by a spider bite.

Acute generalized exanthematous pustulosis (AGEP) is a rare, severe cutaneous reaction pattern that, in the majority (>90%) of cases, is related to administration of medication. It can be seen in both genders and in all ages. The cutaneous manifestations of AGEP are usually seen 1-14 days after drug administration. A 39-year-old woman presented to our outpatient clinic with the complaint of generalized erythema, burning, and rash. She explained that 2 days before presentation a spider bite had occurred on her left forearm, after which she had experienced pain and erythema spreading gradually to the left upper extremity. On her dermatologic examination, she had an indurated necrotic plaque on the left forearm, which had an upward-spreading linear erythema. Additionally, she had diffuse erythema on her body and small pustules over erythematous skin, especially located on the left popliteal fossa and gluteal region. Based on the clinical and histopathologic findings, she was diagnosed as having AGEP. Because there was no drug use in her history, we attributed her AGEP lesions to the spider bite. This case is interesting, because the patient also had lymphangitis. Herein, we present the fifth case reported in the literature of AGEP caused by a spider bite.

Nonsyndromic multiple basal cell carcinomas successfully treated with imiquimod 5% cream.

This report describes the case of a 60-year-old man with nonsyndromic multiple basal cell carcinomas that responded to imiquimod 5% cream. The patient had no additional anomalies suggesting any syndromes associated with multiple basal cell carcinomas. By applying the agent 5 times a week for 20 weeks, we obtained good clinical results, and we confirmed the improvement with histopathologic examination. We suggest that patients with multiple basal cell carcinomas should be interviewed about and tested for the associated syndromes, and topical imiquimod should be kept in mind as an alternative therapy choice in these patients.