1,284 results match your criteria Disorders of Oral Pigmentation

Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome.

J Invest Dermatol 2022 May 11. Epub 2022 May 11.

iGReD, CNRS, Inserm, Université Clermont-Auvergne, France. Electronic address:

Carney complex (CNC) is a rare familial multi-neoplastic syndrome predisposing to endocrine and non-endocrine tumors due to inactivating mutations of PRKAR1A leading to perturbations of the cAMP protein kinase A (PKA) signaling pathway. Skin lesions are the most common manifestation of CNC, including lentigines, blue nevi and cutaneous myxomas, in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained. Read More

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Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.

Front Pediatr 2022 6;10:834268. Epub 2022 Apr 6.

The Key Laboratory of Chemical Biology and Molecular Engineering of Ministry of Education of China, Shanxi University, Taiyuan, China.

Background: Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 () is responsible for 4.6% of the DC with an X-linked inheritance pattern. Read More

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Oral fixed drug eruption: Analyses of reported cases in the literature.

J Stomatol Oral Maxillofac Surg 2022 Apr 17. Epub 2022 Apr 17.

Dentistry Student, School of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

Background: This analytic study aimed to summarize the data regarding OFDEs manifestations and characteristics available up to date.

Materials And Methods: We searched online databases for relevant articles and summarized their data regarding age, gender, Main drug classification and name, additional drugs, dosages, primary disorders, OFDE presentation and location, extra-oral presentation and location, follow-up, and treatment.

Results: The mean age of OFDE-affected patients was 38. Read More

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A white patch on the tongue.

BMJ 2022 04 13;377:e070027. Epub 2022 Apr 13.

Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, China.

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Comparison of fractional erbium:YAG laser-assisted tranexamic acid delivery alone and in combination with oral tranexamic acid in melasma.

Lasers Med Sci 2022 Mar 26. Epub 2022 Mar 26.

Department of Dermatology, Gülhane Faculty of Medicine, University of Health Sciences, General Dr. Tevfik Sağlam Cad, SBÜ Gülhane EAH Dermatoloji AD, 06030, Keçiören, Ankara, Turkey.

Tranexamic acid (TA) emerged as a promising agent for melasma. However, due to its hydrophilic structure, topical TA should be combined with a penetration-enhancing strategy to augment efficacy. To evaluate the efficacy of fractional erbium:YAG laser-assisted delivery (LAD) of topical TA 5% either with or without oral TA treatment in recalcitrant melasma patients. Read More

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Oral tranexamic acid with a triple combination cream versus oral tranexamic acid monotherapy in the treatment of severe melasma.

J Cosmet Dermatol 2022 Mar 27. Epub 2022 Mar 27.

Department of Dermatology, University Hospital "Dr, Jose Eleuterio Gonzalez", Universidad Autonoma de Nuevo Leon, Monterrey, Mexico.

Background: Melasma is an acquired pigmentation disorder with a complex multifactorial etiopathogenesis. Oral tranexamic acid (TA) is a promising drug for its treatment, and may enhance outcomes when used in combination.

Objective: To provide evidence of the efficacy and safety of oral TA as a monotherapy, and in combination with a triple combination cream, for treating melasma in the Hispanic population. Read More

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Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Genes (Basel) 2022 03 11;13(3). Epub 2022 Mar 11.

Department of Pediatric Surgery, Meyer Children's Hospital, Viale Gaetano Pieraccini 24, 50139 Florence, Italy.

Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. Read More

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Molecular insight of dyskeratosis congenita: Defects in telomere length homeostasis.

J Clin Transl Res 2022 Feb 3;8(1):20-30. Epub 2022 Jan 3.

Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran.

Background: Dyskeratosis congenita (DC) is a rare disease and is a heterogenous disorder, with its inheritance patterns as autosomal dominant, autosomal recessive, and X-linked recessive. This disorder occurs due to faulty maintenance of telomeres in stem cells. This congenital condition is diagnosed with three symptoms: oral leukoplakia, nail dystrophy, and abnormal skin pigmentation. Read More

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February 2022

Prevalence of oral mucosal lesions in an adult population from eight communities in Santo Domingo, Dominican Republic.

Acta Odontol Latinoam 2021 Dec;34(3):249-256

Pontificia Universidad Católica Madre y Maestra (PUCMM), Escuela de Odontología, Departamento de Periodoncia, Santo Domingo, República Dominicana.

The purpose of the study was to evaluate the prevalence of Oral Mucosal Lesions (OMLs) in an adult population from Santo Domingo, Dominican Republic. 751 subjects from eight communities from Santo Domingo accepted the invitation to participate in an oral screening from October 2016 to January 2017. 248 subjects were evaluated and clinically examined, age range 18-86 years. Read More

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December 2021

Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.

Am J Med Genet A 2022 04 9;188(4):1226-1232. Epub 2021 Dec 9.

Institute of Health Sciences, Koç University, Istanbul, Turkey.

Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to pathogenic variants in the essential telomerase components. Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings. Hoyeraal-Hreidarsson syndrome (HHS) is generally an autosomal recessively inherited subgroup showing growth retardation, microcephaly, cerebellar hypoplasia and severe immunodeficiency. Read More

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Duodenal Pseudomelanosis: A Literature Review.

Diagnostics (Basel) 2021 Oct 24;11(11). Epub 2021 Oct 24.

Pathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Duodenal pseudomelanosis (also known as pseudomelanosis duodeni) is a rare endoscopic incidental finding defined by a pigmentation limited to the apex of the intestinal villi, which requires histological confirmation. While its exact pathogenesis is still poorly understood, it appears free from clinical consequences. This condition is believed to be associated with oral iron intake, antihypertensive drugs containing a sulfur moiety (i. Read More

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October 2021

Concomitant endogenous and exogenous etiology for gingival pigmentation.

Dermatol Online J 2021 Aug 15;27(8). Epub 2021 Aug 15.

Oral Pathology, Department of Stomatology, Public Oral Health, and Forensic Dentistry, Ribeira~o Preto Dental School (FORP/USP), University of Sa~o Paulo, Riberão Preto, Sa~o Paulo, Brazil.

Oral pigmented lesions can be physiological or pathological, exogenous or endogenous, as well as focal, multifocal, or diffuse. Among them, the oral melanotic macule (OMM) is a small, well-delimited brown-to-black macule, often affecting the lip and gingiva. Amalgam tattoo (AT) is a grey or black area of discoloration on the oral mucosa as a result of entry of dental amalgam into the soft tissues, commonly gingiva and alveolar ridge. Read More

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Efficacy of narrow band UVB with or without OMP in stabilization of vitiligo activity in skin photo-types (III-V): A double-blind, randomized, placebo-controlled, prospective, multicenter study.

Photodermatol Photoimmunol Photomed 2022 May 18;38(3):277-287. Epub 2021 Nov 18.

Dermatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

Background: NB-UVB has long been the vitiligo management pillar with capability of achieving the main treatment outcomes; repigmentation and stabilization. Its stabilizing effect in dark skin has been debatable. However, randomized controlled trials regarding NB-UVB ability to control disease activity are lacking. Read More

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Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.

BMC Med Genomics 2021 10 9;14(1):242. Epub 2021 Oct 9.

Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200336, China.

Background: Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affected Jouberin protein was also predicted.

Case Presentation: The patient was a 31-year-old male, who presented difficulty at finding toys at the age of 2 years, night blindness from age of 5 years, intention tremor and walking imbalance from 29 years of age. Read More

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October 2021

Cronkhite-Canada Syndrome: A rare Case Report from Nepal.

J Nepal Health Res Counc 2021 Sep 6;19(2):417-420. Epub 2021 Sep 6.

Department of Dermatology, Nepalgunj Medical college, Nepalgunj, Nepal.

Cronkhite-Canada syndrome first described in 1955, is a rare clinical syndrome of unknown etiology. Since then, more than 500 cases have been reported worldwide in the literature. The disease is characterized by diffuse gastrointestinal polyposis, dystrophic changes of the fingernails, cutaneous hyperpigmentation, alopecia, diarrhea, weight loss, and abdominal pain. Read More

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September 2021

Pseudomelanosis Duodeni Appearing after Oral Iron Therapy.

Case Rep Gastroenterol 2021 May-Aug;15(2):689-694. Epub 2021 Jul 29.

Department of Gastroenterology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

Pseudomelanosis duodeni is a rare condition characterized by the endoscopic appearance of diffuse dark pigmentation of the duodenal mucosa. It is typically seen in older women and has been reported to be associated with hypertension, chronic renal disease, diabetes mellitus, gastrointestinal hemorrhage, and the use of medications such as oral iron, furosemide, thiazide, hydralazine, and propranolol. We present a case of pseudomelanosis duodeni appearing after 2 years of oral iron therapy in an 85-year-old woman. Read More

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Immediate Postoperative Treatment of Keloids with Intraoperative Radiation Therapy Technology: A Pilot Study.

Plast Reconstr Surg Glob Open 2021 Sep 17;9(9):e3738. Epub 2021 Sep 17.

Plastic and Reconstructive Surgery, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.

Background: The combination of surgery and postoperative radiotherapy allows for the most effective results with keloids. In this trial, surgery and intraoperative radiation therapy (IORT) technology were used-the hypothesis being that the earlier the application of postoperative radiotherapy, the better the wound healing evolution.

Methods: The study included 16 patients with 21 keloids. Read More

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September 2021

Tissue-specific telomere shortening and degenerative changes in a patient with mutation and dyskeratosis congenita.

Hum Pathol (N Y) 2021 Sep 5;25. Epub 2021 Jul 5.

Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, United States.

Dyskeratosis congenita is a disease of impaired tissue maintenance downstream of telomere dysfunction. Characteristically, patients present with the clinical triad of nail dystrophy, oral leukoplakia, and skin pigmentation defects, but the disease involves degenerative changes in multiple organs. Mutations in telomere-binding proteins such as TINF2 (TRF1-interacting nuclear factor 2) or in telomerase, the enzyme that counteracts age related telomere shortening, are causative in dyskeratosis congenita. Read More

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September 2021

Knuckle Pigmentation as an Early Cutaneous Sign of Vitamin B12 Deficiency: A Case Report.

JNMA J Nepal Med Assoc 2020 Oct 15;58(230):798-800. Epub 2020 Oct 15.

Department of Dermatology, All India Institute of Medical Sciences, Nagpur, Maharashtra, India.

Vitamin B12 deficiency can present with variable hematological, neuropsychiatric, and mucocutaneous changes. Hyperpigmentation, specifically involving the knuckles has been described in vitamin B12 deficiency, but usually,these patients are symptomatic with systemic manifestations like megaloblastic anemia, pancytopenia, or neurological deficits. Here, we are reporting a case of nutritional vitamin B12 deficiency, who presented with isolated knuckle pigmentation and was successfully treated with oral therapy. Read More

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October 2020

Erythema Multiforme Major Associated With Community-Acquired Pneumonia: Lessons From a Case Report.

Front Pediatr 2021 29;9:698261. Epub 2021 Jul 29.

Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.

Erythema multiforme (EM) is an acute immune-mediated inflammatory mucinous skin disorder. The etiology of pediatric EM involves infections, medications, autoimmune diseases, and genetic factors. An 8-year-old girl with (MP) associated community-acquired pneumonia developed erythema target-like symptoms 1 week after azithromycin administration. Read More

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Oral manifestations in paediatric patients with hepatobiliary diseases: a review.

J Biol Regul Homeost Agents 2021 May-Jun;35(3 Suppl. 1):117-125

Department of Surgical, Medical, Molecular and Critical Area Pathology, Unit of Pediatric Dentistry, University of Pisa, Pisa, Italy.

It is well known that greenish pigmentation of the teeth is seen in children following remission of severe jaundice and clinical and serum bilirubin, a degradation product of haemoglobin, may be permanently trapped in forming dental hard tissues causing discolouration and enamel and dentine hypoplasia. Neonatal jaundice is the most common cause of hyperbilirubinemia and pigmentation of the deciduous teeth is the consequence of this condition. Various hepatobiliary pathologies may have a clinical finding in the oral cavity; furthermore, oral manifestations of hepatic pathologies are not just limited to the pigmentation of the deciduous teeth but also the permanent dentition and the mucous membranes can be affected. Read More

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Neuropsychiatric symptoms, oral pigmentation and fever as revealing hints of autoimmune Addison's disease.

Minerva Endocrinol (Torino) 2021 Jul 21. Epub 2021 Jul 21.

Department of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

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Feasibility of oral tranexamic acid for vitiligo patients with melasma.

Dermatol Ther 2021 09 8;34(5):e15047. Epub 2021 Jul 8.

Department of Dermatology, Chang Gung Memorial Hospital, Taipei, Taiwan.

Melasma and vitiligo are both common pigmentary disorders, and the treatment is challenging. Oral tranexamic acid (TA) is effective for refractory melasma; however, the feasibility of TA in vitiligo patients with melasma was not studied. To evaluate the treatment outcomes and adverse effects of oral TA in vitiligo patients with melasma. Read More

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September 2021

Tongue Discoloration.

N Engl J Med 2021 Jun 19;384(25):e102. Epub 2021 Jun 19.

University of Texas Health Science Center at San Antonio, San Antonio, TX

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Pathological lesions of the digestive tract in free-ranging mountain gorillas (Gorilla beringei beringei).

Am J Primatol 2021 08 7;83(8):e23290. Epub 2021 Jun 7.

Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California-Davis, Davis, California, USA.

The finding of parasites and bacterial pathogens in mountain gorilla feces and oral lesions in gorilla skeletal remains has not been linked to pathological evidence of morbidity or mortality. In the current study, we conducted a retrospective study of digestive tracts including oral cavity, salivary glands, esophagus, stomach, intestines (gastrointestinal tract [GI]), liver, and pancreas of 60 free-ranging mountain gorillas from Uganda, Rwanda, and the Democratic Republic of Congo that died between 1985 and 2007. We reviewed clinical histories and gross pathology reports and examined histological sections. Read More

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Mucocutaneous manifestations of patients with chronic kidney disease under hemodialysis: A cross-sectional study of 49 patients.

Dermatol Ther 2021 07 18;34(4):e15015. Epub 2021 Jun 18.

Pediatric Department, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Chronic kidney disease (CKD) is a common medical problem with well-known dermatologic manifestations, some of which highly disturb the patients' quality of life. This cross-sectional study was designed to identify the prevalence and type of cutaneous involvement in CKD patients. The skin manifestations of 49 patients with CKD undergoing hemodialysis at Akhavan Hospital in Kashan, Iran, were recorded over 2 months. Read More

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