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121. Cutaneous Findings in Fanconi Anemia. (Abstract)

and count (%) for categorical variables. Poisson regression and logistic regression models were used to examine the relationships between pigmentary changes and patient characteristics.Nearly all of the patients (96.8%) had at least one cutaneous pigmentary alteration, most arising prior to the teenage years. The most common finding was café-au-lait macules (CALM). Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypo (...) - and hyperpigmented pigment macules.Patients received a single assessment, so the number of pigmentary changes could not be assessed over time.Characteristic morphology of FA includes faint and ill-defined CALM, hypopigmented skin-fold freckle-like macules and the concurrence of hypo- and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.Copyright © 2020. Published by Elsevier Inc.

2020 Journal of American Academy of Dermatology

122. Vitiligo: A Review. Full Text available with Trip Pro

Vitiligo: A Review. Vitiligo, a common depigmenting skin disorder, has an estimated prevalence of 0.5-2% of the population worldwide. The disease is characterized by the selective loss of melanocytes which results in typical nonscaly, chalky-white macules. In recent years, considerable progress has been made in our understanding of the pathogenesis of vitiligo which is now clearly classified as an autoimmune disease. Vitiligo is often dismissed as a cosmetic problem, although its effects can

2020 Dermatology

123. Comparison of efficacy of noncultured hair follicle cell suspension and noncultured epidermal cell suspension in repigmentation of leukotrichia and skin patch in vitiligo: a randomized trial. (Abstract)

Comparison of efficacy of noncultured hair follicle cell suspension and noncultured epidermal cell suspension in repigmentation of leukotrichia and skin patch in vitiligo: a randomized trial. Vitiligo manifests as hypo- to de-pigmented macules, which are sometimes associated with leukotrichia. For complete cosmetic improvement, the repigmentation of leukotrichia is an important component.This randomized controlled trial included patients with stable vitiligo with leukotrichia. Two vitiligo

2020 International Journal of Dermatology

124. Clinical and Dermoscopic Features of Vulvar Melanosis Over the Last 20 Years. (Abstract)

Clinical and Dermoscopic Features of Vulvar Melanosis Over the Last 20 Years. Vulvar melanosis is a common pigmentary change that accounts for most pigmented vulvar lesions. It presents as single or multiple asymptomatic macules or patches of varying size and color that may be asymmetric with poorly defined borders. The differential diagnosis of melanocytic lesions includes melanoma, which creates anxiety for patients and the physicians who diagnose the condition and treat the patients.To

2020 JAMA dermatology (Chicago, Ill.)

125. Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review. Full Text available with Trip Pro

hyperpigmented macules in a sun-exposed area who is prone to develop basal cell carcinomas. A genetic study revealed a novel homozygous c.111_112del deletion in exon 1 of the DDB2 gene. Western blotting analysis revealed that the patient lacked the expression of the wild-type mature DDB2 protein. The proband was first diagnosed with XPE on the basis of clinical findings and genetic testing. Sun protection was recommended, and the patient did not develop any skin cancers during the one-year follow-up.We

2020 BMC Medical Genetics

126. Chronic abdominal pain and diarrhea. (Abstract)

Chronic abdominal pain and diarrhea. Pigmented macules on the patient's oral mucosa provided an important clue to the diagnosis.

2020 Journal of Family Practice

127. Exogenous intoxication by non-prescribed use of vitamin D, a case report. Full Text available with Trip Pro

service with post-prandial food vomiting of undigested content and stabbing abdominal pain with worsening during palpation. Concomitantly, onset of sporadic frontal headache, fatigue, hyporexia, weight loss of 18 kg in the same period, severe pruritus, musculoskeletal pain in the limbs and nocturia. The physical examination showed hypertension (160/80 mmHg) and itchy macules in the lower limb. Initially, the main diagnostic hypotheses were multiple myeloma, hyperparathyroidism and pancreatitis

2020 BMC Geriatrics

128. Melanoma recognition by a deep learning convolutional neural network-Performance in different melanoma subtypes and localisations. (Abstract)

: lentigo maligna melanomas and facial solar lentigines/seborrhoeic keratoses/nevi; set-NM: nodular melanomas and papillomatous/dermal/blue nevi; set-Mucosa: mucosal melanomas and mucosal melanoses/macules/nevi; set-AMskin: acrolentiginous melanomas and acral (congenital) nevi; set-AMnail: subungual melanomas and subungual (congenital) nevi/lentigines/ethnical type pigmentations).The CNN showed a high-level performance in set-SSM, set-NM and set-LMM (sensitivities >93.3%, specificities >65%, receiver

2020 European Journal of Cancer

129. Histopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome. (Abstract)

Histopathological hallmarks of cutaneous lesions of capillary malformation-arteriovenous malformation syndrome. Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a recently described syndrome with distinctive cutaneous lesions. Very little is known about the histopathology of these lesions.The purpose of the study was to evaluate the histopathological characteristics of the pink macules of the CM-AVM syndrome and to investigate if these pink macules could be classified (...) as capillary malformations or arteriovenous malformations based on their histopathological features.We conducted a retrospective multicenter study involving eight hospitals in Spain. Fifteen biopsies from pink macules of the CM-AVM syndrome were analysed and compared with five biopsies of diverse capillary malformations and three stage I arteriovenous malformations.Pink macules' biopsies of the CM-AVM syndrome showed similar features including a high vascular density encompassing capillaries and numerous

2020 Journal of the European Academy of Dermatology and Venereology

130. Is Cutibacterium (previously Propionibacterium) acnes a potential pathogenic factor in the aetiology of the skin disease progressive macular hypomelanosis? Full Text available with Trip Pro

Is Cutibacterium (previously Propionibacterium) acnes a potential pathogenic factor in the aetiology of the skin disease progressive macular hypomelanosis? Progressive macular hypomelanosis (PMH) is a skin condition that normally causes symmetrically distributed hypopigmented macules on the front and back of the trunk, but rarely the face. To date, the pathophysiology of the condition is not well understood, but a role for the anaerobic skin bacterium Cutibacterium (previously Propionibacterium

2020 Journal of the European Academy of Dermatology and Venereology

131. Interferon beta as an enhancer of paraviral exanthema during influenza virus infection. Full Text available with Trip Pro

Interferon beta as an enhancer of paraviral exanthema during influenza virus infection. We herein describe the case of a 33-year-old male patient who presented at our emergency department with concomitant flu symptoms and a maculopapular rash. The evening prior to consultation he had first noticed erythematous macules on the trunk and arms, which had then rapidly progressed overnight. The rash was markedly pronounced at injection sites of interferon-beta (IFN-β) administered for relapsing

2020 Journal of the European Academy of Dermatology and Venereology

132. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report. Full Text available with Trip Pro

with the occurrence of two distinct causative mutations in NF1 and RAB39B explaining the observed phenotype.Here we report a 7-year-old boy with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness. Proband is an only child born to a father aged 47. Parents did not present signs of NF1, while a maternal uncle showed severe ID, epilepsy, and tremors.By RNA analysis of NF1, we

2020 BMC Neurology

136. Pityriasis rosea: What else might it be?

of the wrists, the lumbar region, and the ankles. Whickham's striae (fine white lines) are often present on the buccal mucosa. Pityriasis lichenoides The more common, chronic form is characterized by small, firm, scaly papules (3–10 mm in diameter) that flatten over several weeks. An acute form is characterized by oedematous pink papules, vesicles, or bullae. In both forms, lesions occur most commonly on the trunk and proximal limbs. Pityriasis versicolor Multiple round or oval macules, with a fine scale

2016 NICE Clinical Knowledge Summaries

137. Vitiligo

-segmental vitiligo (or 'vitiligo' used as an umbrella term) and segmental vitiligo, according to its distribution and extent. Depigmented skin macules and patches can appear anywhere, but most commonly affect the fingers and wrists, axillae, groin and genitalia, and the skin around the eyes and mouth. Non-segmental vitiligo is the more common form. It has a non-dermatomal distribution, is usually generalized and symmetrical, and may be divided into: Generalized (bilateral, often symmetrical, depigmented (...) macules or patches occurring in a random distribution over the entire body surface. It often affects areas that tend to experience pressure, friction, and/or trauma). Focal (small, isolated, depigmented lesion without an obvious segmental distribution pattern). Acrofacial (depigmented macules limited to the distal extremities and/or the face, particularly around the orifices). Mucosal (located on the oral and/or genital mucosa). Universal (complete or nearly complete depigmentation of the skin

2016 NICE Clinical Knowledge Summaries

138. Guideline for the Treatment of Acne

Papulopustular acne Most patients have a mixture of non-inflammatory (NIL) and inflammatory lesions [5]. Inflammatory lesions arise from the microcomedo or from non-inflammatory clinically apparent lesions and may be either superficial or deep [6]. Superficial inflammatory lesions include papules and pustules (5 mm or less in diameter). These may evolve into nodules in more severe disease. Inflammatory macules represent regressing lesions that may persist for many weeks and contribute markedly to the general (...) rarely seen. The counting technique involves the direct counting of non-inflamed and inflamed lesions, including superficial papules and pustules, deep inflamed lesions and macules. The revised Leeds acne grading system [19] includes numerical grading systems for the back and chest as well as for the face. The Echelle de Cotation des Lesions d’Acne (ECLA) or “Acne Lesion Score Scale” system has demonstrated good reliability [20]. However, ECLA scores do not correlate with quality of life scores

2016 European Dermatology Forum

139. The effect of melasma on self-esteem: A pilot study Full Text available with Trip Pro

The effect of melasma on self-esteem: A pilot study Melasma is a common disorder of hyperpigmentation characterized by tan or brown macules and patches affecting sun-exposed areas, particularly the face. Melasma has been shown to have a significant impact on the quality of life and self-esteem of those affected. We interviewed six patients who were diagnosed with moderate-to-severe melasma with regard to the effect of their disorder on their self-esteem. All patients reported a significant

2017 International journal of women's dermatology

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