X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.

Evaluation of chronic pruritus and associated skin findings in patients with diabetes mellitus.

Background/aim: To explore the dermatological lesions associated with chronic pruritus in patients who were followed up at our clinic for type 1 and type 2 diabetes mellitus (DM). Materials and methods: The study population consisted of 249 patients with DM, who presented to the endocrinology clinic at Ankara University Faculty of Medicine between January 2022, and March 2022, regardless of whether they had reported experiencing pruritus symptoms. The visual analog scale and 5-D itch scale were used to determine the severity of itching in patients. Dermatological examination findings were also evaluated. Results: Of the 249 patients with DM, mean duration since diabetes was diagnosed was 12 ± 9.2 [median 10 (0.3-46)] years, and the mean HbA1c levels were 8.1% ± 2.1%. Pruritus was detected in 77 (30.9%) patients and the mean duration of diabetes diagnosis was 13.4 ± 9.7 years. Examination of the microvascular and macrovascular complications showed that the incidence of retinopathy, nephropathy, neuropathy and peripheral arterial disease was 31.2% (p = 0.003), 31.2% (p = 0.005), 66.2% (p < 0.001) and 10.4% (p = 0.038), respectively, in the group with pruritus. These incidences were significantly higher in the group with pruritus than in those without pruritus. Dermatological examination showed that the most common condition was xerosis (64%), followed by fungal skin infection (16%) and bullous pemphigoid (8%). No skin findings were noted in 7% of patients who complained of itching. Conclusion: Chronic pruritus may be associated with several factors such as poor glycemic control, high BMI and microvascular and macrovascular complications in patients with DM. Especially in patients with severe generalized pruritus who do not respond to standard antipruritic treatments, the use of DPP-4 inhibitors, a class of oral antidiabetic agents, should be questioned and all medications being used by the patient should be reviewed.

Evaluation of Dermatological and Neurological Aspects of the Relationship between Rosacea and Headaches.

This study aimed to investigate the relationship between rosacea and headaches, focusing on different subtypes, as well as the associated clinical features and triggering factors. In this prospective study, 300 patients diagnosed with rosacea and 320 control subjects without rosacea or any connected mast cell activation illness were included. Patients with rosacea were assessed by a dermatologist according to the 2019 updated rosacea classification (ROSCO panel). Accordingly, patients were classified based on their predominant rosacea subtype as follows: erythematotelangiectatic (ETR), papulopustular (PPR), or phymatous (RhR). Patients experiencing headaches were assessed using the International Headache Classification. Headaches were categorized as migraine, tension-type headaches (TTHs), secondary types (STHs), and cluster-type headaches (CTHs). The ratio of headache was 30.3% in the rosacea group, which did not show a significant difference compared to the control group (30.3% vs. 25.0%, p = 0.138). In 81.3% of rosacea patients with headaches, headache onset occurred after the diagnosis of rosacea. The rate of patients with headaches was higher in the ETR group compared to the PPR and RhR groups (35.2% vs. 16.2% vs. 23.1%, p = 0.007, respectively). In terms of headache subtypes, the rates of patients with migraine and STHs were higher in the ETR group compared to the PPR and RhR groups, while the rate of patients with TTHs was higher in the RhR group. A positive correlation was found between rosacea severity and migraine severity (r = 0.284, p < 0.05). Among the triggering factors for rosacea, only sunlight was found to be associated with headaches. Lower age, female gender, and moderate to severe rosacea severity were identified as independent factors increasing the likelihood of headaches. A significant portion of rosacea patients experience headaches. Particularly, different subtypes of rosacea may be associated with various types of headaches. This study, highlighting the connection between migraine and ETR, is a pioneering work that demonstrates common pathogenic mechanisms and potential triggers.

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.

Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumulation of methylsterols can affect global development and cause skin and ocular pathology. Herein, we describe 2 siblings from a consanguineous Turkish family with SC4MOL deficiency presenting with psoriasiform dermatitis, ocular abnormalities (nystagmus, optic hypoplasia, myopia, and strabismus), severe intellectual disability, and growth and motor delay. We undertook whole-exome sequencing and identified a new homozygous missense mutation c.81A>C; p.Asn27Thr in MSMO1. Segregation analysis in all available family members confirmed recessive inheritance of the mutation. The siblings were treated with a combination of oral and topical statin and cholesterol which resulted in clinical improvement. This study demonstrates how genomics-based diagnosis and therapy can be helpful in clinical practice.

The effects of isotretinoin on affective and cognitive functions are disparate in adolescent acne vulgaris patients.

Background: The vulnerable brain regions to isotretinoin are represented as hippocampus and prefrontal cortex, involved in mood regulation as well as coordination of cognitive functions. Adolescence is a critical period with dynamic alterations in neurocognition. Isotretinoin brought concerns about its possible effects on executive functions, attention and memory.Objective: Evaluate the impacts of isotretinoin on neurocognitive functions in adolescents with acne vulgaris and determine the emergence of psychiatric side effects.Materials and methods: Fifty-five adolescent acne vulgaris patients were assigned to either isotretinoin (n = 38) or systemic antibiotic (n = 17) groups. The neuropsychological test battery and psychometric tests were performed before treatment and during treatment with 3-months intervals.Results: Stroop-TBAG form, verbal-auditory digit span, controlled oral word association test and trail making test results improved in the isotretinoin treatment group along with stable scores in the antibiotic group. Children Depression Scale scores of the isotretinoin group showed an increase at 6th month compared to baseline. None of the patients was evaluated as depressive by the psychiatric examination.Conclusions: In a vulnerable age group, our results demonstrate an improvement for neurocognitive functions in isotretinoin patients. The conflicting results suggest distinct mechanisms to be responsible for the effects on affective and cognitive functions.

Clinical and Sociodemographic Characteristics of Ingrown Nails in Children.

BACKGROUND: Ingrown nail is a condition frequently seen in children and adolescents, the pain from which can affect their daily living activities and school performances. The purpose of this study was to determine the clinical and sociodemographic characteristics of ingrown nails in children. METHODS: The clinical and sociodemographic characteristics of patients aged 0 to 18 years presenting with ingrown nail were evaluated retrospectively from clinic records. RESULTS: Sixty-two patients aged 3 to 18 years (mean age, 15 years; male to female ratio, 1.06) were enrolled. A total of 175 ingrown nails were evaluated (all of them were in the halluces, 54.3% of them were on the lateral margin). A positive family history of ingrown nail was present in 15.7%. High prevalences of incorrect nail cutting (72.1%), trauma (36.1%), poorly fitting shoes (29%), hyperhidrosis (12.9%), obesity (9.7%), and accompanying nail disorders (9.7%) were determined among the patients. CONCLUSIONS: This study revealed the clinical and sociodemographic characteristics of ingrown nails in children. These data will be useful in preventing the occurrence of ingrown nail by revealing and then eliminating predisposing factors.

Clinical and Sociodemographic Characteristics of Patients with Ingrown Nails.

BACKGROUND: Ingrown nail is a common health problem that significantly affects daily life due to its painful nature. The purpose of this study was to reveal the clinical and sociodemographic characteristics of ingrown nails. METHODS: The clinical and sociodemographic characteristics of patients older than 18 years presenting with ingrown nail were investigated. RESULTS: Two hundred six patients aged 18 to 77 years (mean age, 39 years; female to male ratio, 1.45) were included in the study. A total of 729 lesions were evaluated (718 ingrown nails were on the feet and 11 were on the fingers). A family history of ingrown nail was present in 7.6% of the participants. Of the 206 patients, 26.7% were treated with surgical methods for ingrown nails previously and experienced recurrence. Ingrown toenails were in the hallux in 81.3% of patients, and 52% were on the lateral margin. Incorrect nail-cutting habits (73.5%), poorly fitting shoes (46.2%), excessive angulation of the nail plate (35.8%), obesity (34.1%), trauma to the feet (24.3%), pregnancy (23.8% of women), hyperhidrosis (16.8%), and lateral deviation of the nail plate (9.9%) were closely associated with ingrown nails. CONCLUSIONS: This study revealed the clinical and sociodemographic characteristics of ingrown nails. The study data will be useful in preventing the development of ingrown nail and recurrences after treatment by identifying and then eliminating conditions establishing a predisposition to it.

A rare case of malignant syphilis after adalimumab therapy due to Crohn's disease associated with bariatric surgery.

Malignant syphilis (also known lues maligna) is a rare and severe variant of secondary syphilis. It is most commonly seen in patients who are infected with human immunodeficiency virus (HIV), and rarely, it can occur in immunocompetent individuals. The exact mechanism of the development of malignant syphilis is not clear. It could probably be associated with immunosuppression, inappropriate immune response of the host, or virulent strain of Treponema pallidum. Coexistence of immunosuppression and inappropriate immune response may predispose to develop malignant syphilis in HIV-infected patients with immune reconstitution inflammatory syndrome. Herein, we report the first case of malignant syphilis after adalimumab therapy for Crohn's disease due to bariatric surgery and discuss the underlying possible pathogenic mechanisms.

Hidradenitis suppurativa: Clinical characteristics and determinants of treatment efficacy.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder that causes a significant decline in quality of life. There are numerous treatment options; however, real-life data on the efficacy of these treatments is limited. This study was performed in two centers to describe clinical characteristics and assess treatment outcome in a cohort of 139 patients with HS. Data on demographic and clinical characteristics, Hurley stage and comorbidities were collected from patient charts and evaluated retrospectively. Treatment response was measured with HS clinical response index (HISCR). Mean body mass index was 27.8±4.88. Inflammatory comorbidities were present in 23%. Among first-line drugs systemic doxycycline resulted in 60% HISCR followed by rifampicin-clindamycin combination (46.4%). Isotretinoin had the lowest HISCR (30.7%) in this group. For second-line therapies, all acitretin treated patients achieved response and patients treated with tumor necrosis factor alpha (TNF-α) inhibitors had the highest HISCR. Currently recommended first-line therapies have moderate efficacy in HS. Acitretin appears to be a reasonable alternative for the highly effective TNF-α inhibitors in patients with severe and resistant HS. Overall, these results support that excessive inflammatory response play an important role in pathogenesis of HS.

Risk Factors and Frequency of Ingrown Nails in Adult Diabetic Patients.

The present study evaluated the properties of nails, frequency of ingrown nails in patients with type 2 diabetes mellitus (DM), risk factors for developing ingrown nails, and effect of diabetic polyneuropathy and vasculopathy on the development and outcome of ingrown nails. Our 6-month epidemiologic prospective study included 300 patients with type 2 DM attending a DM outpatient clinic for routine examinations. The general characteristics and foot changes of the study population were investigated. Diabetic polyneuropathy and vasculopathy were evaluated using a biothesiometer, monofilament tests, and arterial Doppler ultrasonography. The frequency of ingrown nails was 13.6%. Multivariate analysis with logistic regression showed that body mass index (odds ratio [OR] 1.077, 95% confidence interval [CI] 1.007 to 1.15; p = .03), previous trauma (OR 2.828, 95% CI 1.017 to 7,867, p = .042), a weak dorsalis pedis pulse (OR 2.72, 95% CI 1.17 to 6.30, p = .02), trimming type (OR 2.3, 95 CI 1.06 to 4.98), p = .35), onychogryphosis (OR 9.036, 95% CI 2.34 to 34.87, p = .001), and subungual hyperkeratosis (OR 4.3, 95% CI 1.99 to 9.3, p = .001) were predictive variables for ingrown nails in our population. The incidence of onychomycosis was significantly greater in patients with ingrown nails (p = .032) than in patients without ingrown nails. The nail curvature ratio was greater in the patients with ingrown nails than in the group with normal nails. Arterial Doppler ultrasound examinations showed peripheral arterial disease in 19 patients (46.9%) with ingrown nails. The prevalence of ingrown nails was greater in the patients with DM than in the healthy population. Our results indicate that nail type, nail morphology, and diabetic vasculopathy affect the formation and evolution of ingrown nails.

Long-Term Follow-Up Results of Topical Imiquimod Treatment in Basal Cell Carcinoma.

BACKGROUND: Imiquimod 5% topical cream is approved for treatment of superficial basal cell carcinoma (BCC). Data on the long-term efficacy and usage in other BCC subtypes are scarce. OBJECTIVE: Evaluation of long-term safety and efficacy of topical imiquimod treatment in various BCC subtypes and locations, with individualized treatment duration. MATERIALS AND METHODS: Histopathologically confirmed BCCs treated solely with topical imiquimod were identified retrospectively and included in this study. Clinical and histopathologic tumor clearances were the primary end point. After treatment was concluded, patients were examined every 3 to 6 months. RESULTS: In total, 24 BCC samples from 22 patients (F:M = 9:13; mean age: 73.5 years, SD: 10.767) were evaluated. The majority of the lesions were located in the head and neck area (83%). Mean treatment duration until complete clearance was 15.7 ± 6.9 weeks (6-28 weeks). Imiquimod was discontinued in 3 lesions, due to either clinically or histopathologically insufficient response. During follow-up, 2 lesions recurred, at 42 and 50 months after treatment. During a mean follow-up time of 72.7 (SD = 9) months, 79.1% of the lesions were cured without local recurrence. CONCLUSION: Although imiquimod is only approved for superficial BCC, treatment success was high among the study patients with various histological subtypes, with good long-term cosmetic results.

Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare subepidermal bullous disease. Long-term remission in this disease is difficult using current treatments, unlike that in patients with other autoimmune bullous diseases. OBJECTIVE: We retrospectively evaluated the effectiveness and side effects of rituximab-intravenous immunoglobulin (IVIg) combination treatment in five patients with EBA resistant to conventional treatment. PATIENTS AND METHODS: Rituximab (375 mg/m2) was administered for four consecutive weeks to four patients, and their treatment continued with IVIg at a dose of 2 g/kg/month. One patient received two cycles of rituximab for three consecutive weeks, IVIg in the fourth week, followed by monthly IVIg administrations as in the other patients. RESULTS: The total number of IVIg therapy cycles ranged from 10 to 26 (mean 19.4). Mean skin involvement, mucosal involvement, and disease severity scores decreased after a mean follow-up of 22.6 months (range, 10-28 months). In an analysis performed during months 24-28, the number of CD19-positive B cells was found to be below the normal reference range in four patients. LIMITATIONS: This was a retrospective study with a limited number of patients. CONCLUSION: Rituximab-IVIg combination treatment seems to be effective and safe for treating patients with EBA resistant to conventional treatments.

Development of poorly differentiated invasive squamous cell carcinoma in giant Bowen's disease: a case report with dermatoscopy.

Bowen's disease (BD) is an in situ form of squamous cell carcinoma (SCC), often occurring in the chronically UV-damaged skin of elderly people. The risk of progression of BD to invasive SCC varies between 3% and 5%, and one-third of invasive tumors may metastasize. Herein we discuss the dermatoscopic findings of a case of giant Bowen's disease, which progressed to poorly differentiated invasive SCC.

Comparison of effectiveness of 1,064-nm Nd:YAG laser and Nd:YAG laser-IPL combination treatments in hand skin rejuvenation.

OBJECTIVE: Evaluation of the efficacy and side effects of neodymium-doped yttrium aluminum garnet (Nd:YAG) laser and Nd:YAG laser-intense pulsed light (IPL) combination treatments in photorejuvenations of skin of the hand, and determining their impacts on patient satisfaction. MATERIALS AND METHODS: Thirty-five female patients with signs of photoaging on the skin of their hands were included in the study. Three sessions of IPL and four sessions of Nd:YAG laser treatment were applied to the right hand in total with 2-week intervals between each session, whereas six sessions of Nd:YAG laser treatment were applied to the left hand of patients with 2-week intervals between each session. RESULTS: The patients' ages ranged between 31 and 78, and mean age was 60.77 ± 9.48. While there was no difference in pigment distribution, fine wrinkles, coarse wrinkles, and global scores between the right and left hand prior to treatment (p > 0.05), average pigment tone score was higher in the right hand with a statistically significant difference (p < 0.05). There was greater improvement in scores of pigment distribution, fine wrinkles, sallowness, pigment tone parameters, and global score on the right hand compared to left hand, which was statistically significant (p <0.001). CONCLUSION: In rejuvenation of photoaged dorsal skin of the hand, IPL-Nd:YAG laser combination treatment surpasses Nd:YAG laser treatment.

Complications of sodium hydroxide chemical matrixectomy: nail dystrophy, allodynia, hyperalgesia.

Ingrown toenails are seen most commonly in young adults, and they can seriously affect daily life. Partial nail avulsion with chemical matrixectomy, generally by using either sodium hydroxide or phenol, is one of the most effective treatment methods. Known complications of phenol matrixectomy are unpredictable tissue damage, prolonged postoperative drainage, increased secondary infection rates, periostitis, and poor cosmetic results. To our knowledge, there have been no reports about the complications related to sodium hydroxide matrixectomy. Herein, we describe three patients who developed nail dystrophy, allodynia, and hyperalgesia after sodium hydroxide matrixectomy.

Chemical matricectomy with sodium hydroxide: long-term follow-up results.

BACKGROUND: Chemical matricectomy with sodium hydroxide is a method being used successfully in the treatment of ingrown toenail. OBJECTIVE: In this study, it was aimed to evaluate long-term recurrence rates after chemical matricectomy using sodium hydroxide application of different durations. MATERIALS AND METHODS: Two hundred two patients with ingrown nail edges were treated with either 1-minute (Group 1) or 2-minute (Group 2) applications of sodium hydroxide matricectomy. All patients were followed for at least 2 years. RESULTS: Chemical matricectomy with sodium hydroxide was applied to a total of 585 nail edges of 202 cases. The overall recurrence rates in Group 1 and Group 2 were 6.4% and 7.1%, respectively, during the average 7.5-year follow-up period. No statistically significant differences were detected in terms of recurrence between the 2 groups (p = .73). CONCLUSION: Chemical matricectomy with sodium hydroxide is an easy method in the treatment of ingrown nails, with low morbidity and high success rates. There was no difference between 1-minute and 2-minute applications in terms of recurrence during the long-term follow-up. Chemical matricectomy with 1-minute application of sodium hydroxide showed high success in terms of long-term follow-up results.

Clinical Aspects Of Sclerodermatous Type Graft-Versus-Host Disease After Allogeneic Hematopoietic Cell Transplantation.

OBJECTIVE: We aimed to evaluate the clinical features of sclerodermatous chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic stem cell transplantation (AHSCT). METHODS: We retrospectively analyzed 423 patients who underwent AHSCT. We assessed age, sex, pre-transplant diagnosis, conditioning regimen, GVHD prophylaxis, and occurrence of acute GVHD (aGVHD), chronic lichenoid and chronic systemic GVHD, and clinical properties of sclerodermatous GVHD. RESULTS: Sclerotic skin lesions developed in 22 patients after a mean of 752±647 days (median 480). aGVHD appeared in 17 patients, with hepatic involvement in 2, gastrointestinal tract involvement in 2 and skin involvement in 13 of these patients. Extensive chronic GVHD (liver, pulmonary, skin and oral mucosa) developed in 12 patients. Sclerosis was generalized in 19 patients (86.4%) and localized in 3 patients (13.6%). Leopard skin eruption appeared in 8 (36.4%) of the 19 patients with generalized sclerodermatous changes. In most cases, sclerotic lesions appeared on the trunk, and distal parts of the extremities were spared. Eight patients (36.4%) progressed from lichenoid to sclerodermatous lesions, 2 (9.1%) with lichenoid and sclerodermatous phases together and 12 (55.5%) with de novo sclerodermatous lesions. Five patients died because of late transplant-related complications. CONCLUSION: Sclerodermatous GVHD has a late onset and may be quite disabling. Unlike scleroderma, acral involvement is seen rarely. Although most lesions do not disappear in the course of the disease, most patients have a good prognosis.

Vitiligo after hematopoietic cell transplantation: six cases and review of the literature.

AIM: To investigate the prevalence and clinical characteristics of vitiligo after allogeneic hematopoietic cell transplantation (AHCT). METHODS: The development of vitiligo was analyzed among 421 patients who underwent AHCT in Ibni Sina Hospital (University of Ankara) between 1988 and 2004. RESULTS: Among 421 patients, we describe 6 with generalized vitiligo occurring after AHCT for chronic myelogenous leukemia. Five of them had severe chronic graft-versus-host disease (GVHD). Vitiligo was accompanied by alopecia areata and acquired ichthyosis in 2 patients with GVHD. CONCLUSION: Melanocyte destruction caused by the autoimmune reactions triggered by chronic GVHD as well as a genetic predisposition might have played a role in the development of vitiligo in our patients. These data support the hypothesis that vitiligo is an autoimmune entity.

Comparison of phenol and sodium hydroxide chemical matricectomies for the treatment of ingrowing toenails.

OBJECTIVE: Chemical matricectomy is performed mainly by two agents: phenol and sodium hydroxide. Both agents have excellent cure rates, but there are no data about the comparison of postoperative healing periods. This study was designed to compare the postoperative morbidity rates of sodium hydroxide and phenol matricectomies. MATERIALS AND METHODS: Forty-six patients with 154 ingrowing nail sides were treated with either sodium hydroxide or phenol matricectomy. In the postoperative period, the patients were evaluated for the duration and severity of pain, drainage, and peripheral tissue destruction; complete healing periods; and overall success rates. RESULTS: The incidence of pain was higher in the sodium hydroxide group on the first visit, on the second day, but all patients became pain-free after that. The incidence and duration of drainage and peripheral tissue destruction was significantly higher in the phenol group. The mean period for complete recovery was 10.8 days in the sodium hydroxide group, whereas it was 18.02 days in the phenol group. The overall success rates in the sodium hydroxide and phenol groups were found to be 95.1 and 95.8%, respectively. CONCLUSION: Both sodium hydroxide and phenol are effective agents giving high success rates, but sodium hydroxide causes less postoperative morbidity and provides faster recovery.

Post-renal transplantation Leser-Trélat sign associated with carcinoma of the gallbladder: a rare association.

The sign of Leser-Trélat represents the sudden appearance of multiple seborrheic keratoses in association with an underlying malignancy. The most common associated neoplasms belong to the gastrointestinal tract, mainly the stomach and colon. In the literature, there is only one case of gallbladder carcinoma associated with the Leser-Trélat sign. Thus, the hallmark of our patient is post-renal transplant malignancy-associated Leser-Trélat, which has not been reported before. Here, we report on a 57-year-old man who presented with a sudden increase in the number and size of seborrheic keratoses, particularly on sun-exposed areas 24 years after renal transplantation. The search for an underlying malignancy showed the presence of an adenocarcinoma of the gallbladder which had metastasized to the liver.