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Developmental Dynamics : An Official... Apr 2017Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related... (Review)
Review
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). FGFR3 is expressed in chondrocytes and mature osteoblasts where it functions to regulate bone growth. Analysis of the mutations in FGFR3 revealed increased signaling through a combination of mechanisms that include stabilization of the receptor, enhanced dimerization, and enhanced tyrosine kinase activity. Paradoxically, increased FGFR3 signaling profoundly suppresses proliferation and maturation of growth plate chondrocytes resulting in decreased growth plate size, reduced trabecular bone volume, and resulting decreased bone elongation. In this review, we discuss the molecular mechanisms that regulate growth plate chondrocytes, the pathogenesis of Ach, and therapeutic approaches that are being evaluated to improve endochondral bone growth in people with Ach and related conditions. Developmental Dynamics 246:291-309, 2017. © 2016 Wiley Periodicals, Inc.
Topics: Achondroplasia; Animals; Chondrocytes; Growth Plate; Humans; Receptor, Fibroblast Growth Factor, Type 3; Signal Transduction
PubMed: 27987249
DOI: 10.1002/dvdy.24479 -
Translational Pediatrics Oct 2017The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute... (Review)
Review
The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures. Stimulation of the thyrotropin receptor in hyperthyroidism results in mesenchymal tissue proliferation and consequent pretibial myxedema; other associated cutaneous features include onycholysis, and hyperhidrosis. Individuals with hypothyroidism exhibit cold, dry skin and brittle hair as well as a jaundice-like appearance due to carotene excess. The cutaneous features of diabetes mellitus (DM), mediated to a large extent by hyperglycemia and hyperinsulinemia, include necrobiosis lipoidica diabeticorum (NLD), diabetic dermopathy, and acanthosis nigricans. Pediatric patients with Cushing's syndrome almost invariably present with truncal obesity and growth retardation; disruption of collagen formation and the catabolic effects of hypercortisolism result in skin atrophy and purple abdominal striae. In patients with Addison's disease, generalized hyperpigmentation, secondary to elevated levels of melanocyte-stimulating hormone (MSH), is most prominent in sun-exposed areas. Due to hyperandrogenism, individuals with polycystic ovarian syndrome (PCOS) often exhibit hirsutism, acne vulgaris, and androgenetic alopecia. In multiple endocrine neoplasia (MEN) syndromes, specific gene mutations may lead to angiofibromas, lichen amyloidosis, and ganglioneuromas. Disruptions of immune regulation result in autoimmune polyglandular syndromes (APS) and associated clinical features including chronic mucocutaneous candidiasis, vitiligo, and alopecia areata. This paper highlights the underlying pathophysiology, dermatologic manifestations, and treatment of the aforementioned endocrine disorders.
PubMed: 29184811
DOI: 10.21037/tp.2017.09.08 -
American Family Physician Dec 2017Pigmentation disorders are commonly diagnosed, evaluated, and treated in primary care practices. Typical hyperpigmentation disorders include postinflammatory... (Review)
Review
Pigmentation disorders are commonly diagnosed, evaluated, and treated in primary care practices. Typical hyperpigmentation disorders include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café au lait macules. These conditions are generally benign but can be distressing to patients. Appropriate dermatologic history, skin examination, and skin biopsy, when appropriate, can help exclude melanoma and its precursors. In addition to addressing the underlying condition, hyperpigmentation is treated with topical agents, chemical peels, cryotherapy, light or laser therapy, or a combination of these methods. Café au lait macules are treated with surgical excision or laser therapy if treatment is desired. Hypopigmentation disorders include vitiligo, pityriasis alba, tinea versicolor, and postinflammatory hypopigmentation. Treatment of vitiligo depends on the distribution and extent of skin involvement, and includes topical corticosteroids and calcineurin inhibitors, ultraviolet A therapy (with or without psoralens), narrowband ultraviolet B therapy, and cosmetic coverage. Patients with stable, self-limited vitiligo may be candidates for surgical grafting techniques, whereas those with extensive disease may be candidates for depigmentation therapy to make skin tone appear more even. Other hypopigmentation disorders may improve or resolve with treatment of the underlying condition.
Topics: Acanthosis Nigricans; Adrenal Cortex Hormones; Cafe-au-Lait Spots; Humans; Hyperpigmentation; Laser Therapy; Nevus; Pigmentation Disorders; Tinea Versicolor; Treatment Outcome
PubMed: 29431372
DOI: No ID Found -
Acta Medica Portuguesa Jun 2019Diabetes is a serious, chronic disease with a rising prevalence worldwide. Its complications are a major cause of morbidity and mortality and contribute substantially... (Review)
Review
Diabetes is a serious, chronic disease with a rising prevalence worldwide. Its complications are a major cause of morbidity and mortality and contribute substantially to health care costs. In this article the authors review the most common and sensitive skin manifestations that can be present on patients with diabetes and prediabetes. The prompt recognition of these frequently underestimated entities is extremely important as it may trigger not only an adequate metabolic evaluation but also a timely referral and appropriate treatment, minimizing the secondary effects of long-term diabetes and improving the prognosis of diabetic patients.
Topics: Acanthosis Nigricans; Blister; Diabetes Complications; Diabetic Angiopathies; Diabetic Foot; Granuloma Annulare; Humans; Necrobiosis Lipoidica; Prediabetic State; Scleredema Adultorum; Skin Diseases; Skin Diseases, Infectious; Skin Diseases, Vascular; Xanthomatosis
PubMed: 31292028
DOI: 10.20344/amp.10738 -
Atencion Primaria Jun 2022To review and discuss the current evidence of the use of metformin as a therapeutic tool in frequent skin diseases. (Review)
Review
OBJETIVE
To review and discuss the current evidence of the use of metformin as a therapeutic tool in frequent skin diseases.
DESIGN
Original article. Qualitative research. Narrative review.
LOCATION
Aragon and Murcia, Spain.
PARTICIPANTS
Resident Physicians. Dermatology and Primary Health Care.
METHOD
A narrative review has been carried out using the PubMed bibliographic database, being the search date the 27th of January of 2022.
RESULTS
Metformin has proven to be effective in the treatment of inflammatory skin diseases such as acne, hidradenitis suppurativa, psoriasis and allergic contact dermatitis. It has also shown antitumor properties regarding basal cell carcinoma, squamous cell carcinoma and melanoma. Additionally, beneficial effects of adjuvant treatment with metformin have been described in patients with basal cell carcinoma receiving photodynamic therapy. In patients with endocrinology-related dermatosis such as hirsutism, acanthosis nigricans and eruptive xanthomas, treatment with metformin has demonstrated therapeutic effectiveness. Topical treatment with metformin has also been useful in the treatment of melasma. Finally, it has been proposed as a drug with anti-aging and wound-healing promoting properties. Severe adverse effects have not been observed for any of the previously described indications, being this a well-tolerated treatment.
CONCLUSIONS
Metformin is an effective and safe adjuvant in the therapeutic scheme of various inflammatory dermatoses, skin neoplasms, endocrinology-related dermatosis, melasma, skin aging and wound healing processes.
Topics: Dermatitis; Humans; Melanosis; Metformin; Skin Diseases; Spain
PubMed: 35569426
DOI: 10.1016/j.aprim.2022.102354 -
Biomedical Papers of the Medical... Dec 2022Although symptoms of pancreatic diseases such as pancreatitis, acute and chronic and, carcinoma of the pancreas are mainly gastrointestinal in nature, the... (Review)
Review
Although symptoms of pancreatic diseases such as pancreatitis, acute and chronic and, carcinoma of the pancreas are mainly gastrointestinal in nature, the extra-pancreatic symptoms are also important. These include skin symptoms, such as pancreatic panniculitis, acanthosis nigricans, livedo reticularis, necrolytic migratory erythema, cutaneous signs of hemorrhage, as in persons with severe acute pancreatitis, or the finding of cutaneous metastases of pancreatic carcinoma, which may be a sign of advanced disease. The pancreas is therefore one of those organs for which diagnosis and therapy are often multidisciplinary. In this review article, we summarize current knowledge of the possible skin manifestations of pancreatic disorders.
Topics: Humans; Acute Disease; Pancreatitis; Pancreatic Diseases; Skin Diseases; Skin; Pancreatic Neoplasms
PubMed: 35938387
DOI: 10.5507/bp.2022.035 -
Current Diabetes Reports Sep 2022Genetic or acquired lipodystrophies are characterized by selective loss of body fat along with predisposition towards metabolic complications of insulin resistance, such... (Review)
Review
PURPOSE OF REVIEW
Genetic or acquired lipodystrophies are characterized by selective loss of body fat along with predisposition towards metabolic complications of insulin resistance, such as diabetes mellitus, hypertriglyceridemia, hepatic steatosis, polycystic ovarian syndrome, and acanthosis nigricans. In this review, we discuss the various subtypes and when to suspect and how to diagnose lipodystrophy.
RECENT FINDINGS
The four major subtypes are autosomal recessive, congenital generalized lipodystrophy (CGL); acquired generalized lipodystrophy (AGL), mostly an autoimmune disorder; autosomal dominant or recessive familial partial lipodystrophy (FPLD); and acquired partial lipodystrophy (APL), an autoimmune disorder. Diagnosis of lipodystrophy is mainly based upon physical examination findings of loss of body fat and can be supported by body composition analysis by skinfold measurements, dual-energy x-ray absorptiometry, and whole-body magnetic resonance imaging. Confirmatory genetic testing is helpful in the proband and at-risk family members with suspected genetic lipodystrophies. The treatment is directed towards the specific comorbidities and metabolic complications, and there is no treatment to reverse body fat loss. Metreleptin should be considered as the first-line therapy for metabolic complications in patients with generalized lipodystrophy and for prevention of comorbidities in children. Metformin and insulin therapy are the best options for treating hyperglycemia and fibrates and/or fish oil for hypertriglyceridemia. Lipodystrophy should be suspected in lean and muscular subjects presenting with diabetes mellitus, hypertriglyceridemia, non-alcoholic fatty liver disease, polycystic ovarian syndrome, or amenorrhea. Diabetologists should be aware of lipodystrophies and consider genetic varieties as an important subtype of monogenic diabetes.
Topics: Diabetes Mellitus; Female; Humans; Hypertriglyceridemia; Lipodystrophy; Lipodystrophy, Congenital Generalized; Magnetic Resonance Imaging; Polycystic Ovary Syndrome; Whole Body Imaging
PubMed: 35821558
DOI: 10.1007/s11892-022-01485-w -
Indian Journal of Dermatology Nov 2014Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged...
Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans.
PubMed: 25484423
DOI: 10.4103/0019-5154.143579