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JAAD Case Reports Apr 2024
PubMed: 38617890
DOI: 10.1016/j.jdcr.2024.01.040 -
Skin Therapy Letter Oct 2005Over the past 2 decades, there have been numerous advances in laser therapy of birth-marks in the pediatric population. Concerns regarding efficacy, overall benefit, and... (Review)
Review
Over the past 2 decades, there have been numerous advances in laser therapy of birth-marks in the pediatric population. Concerns regarding efficacy, overall benefit, and side-effects linger. We present our opinion, based upon decades of clinical experience, on the role of lasers to treat port wine stains, superficial hemangiomas, and café au lait macules in children.
Topics: Cafe-au-Lait Spots; Hemangioma; Humans; Infant; Laser Therapy; Lasers; Port-Wine Stain; Skin Neoplasms
PubMed: 16292457
DOI: No ID Found -
Frontiers in Medicine 2022Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had gene mutations. Up to date, approximately 90 mutations causing piebaldism were reported.
BACKGROUND
Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had gene mutations. Up to date, approximately 90 mutations causing piebaldism were reported.
METHODS
To identify gene mutations in three pediatric piebaldism patients from different families and explore the genotype-phenotype correlation, peripheral blood DNA were collected from probands and their parents. Whole-exome sequencing was performed to detect potential disease-causing variants in the three probands. Putative variants were validated by Sanger sequencing.
RESULTS
Heterozygous variants of c.2469_2484del (p.Tyr823*), c.1994G > C (p.Pro665Leu), and c.1982_1983insCAT (p.662_663insIle) in gene were detected in three probands. These variants were all novel and classified as pathogenic/likely pathogenic variants according to the interpretation guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology. The probands carrying variants located in tyrosine kinase domain exhibited a more severe phenotype.
CONCLUSION
The piebaldism in three families was caused by novel heterozygous variants. The severity of phenotypes is related with the types and locations of different mutations. Our results further provided evidence for genetic counseling for the three families.
PubMed: 36438053
DOI: 10.3389/fmed.2022.1040747 -
Skin Research and Technology : Official... Jun 2023Facial erythema is a common problem among patients visiting dermatologists. However, data on the clinical characteristics of facial erythema in healthy people are... (Comparative Study)
Comparative Study
BACKGROUND
Facial erythema is a common problem among patients visiting dermatologists. However, data on the clinical characteristics of facial erythema in healthy people are lacking. We aimed to compare and analyze the severity and pattern of facial vascularity in healthy subjects based on their age and gender.
MATERIALS AND METHODS
This study included 198 Korean volunteers (126 females and 72 males) with Fitzpatrick skin types II, III, or IV. Fourteen different anatomical areas on the face were divided into facial erythema units. Each unit was scored from one (least erythematous) to five (most erythematous) according to the observed level of erythema on the red images implemented as hemoglobin content. We also evaluated the presence of facial telangiectatic macules.
RESULTS
On average, the perinasal, nasal, and cheek units were the most hypervascular regions. In contrast, the degree of facial erythema was lowest in the labial (perioral), neck, and temporal regions. The average value of erythema was higher in males than in females. Additionally, the severity of erythema tended to increase with age. In both males and females, the number of telangiectatic macules increased with age.
CONCLUSIONS
We analyzed the clinical characteristics of erythema in healthy subjects with Fitzpatrick skin types II, III, or IV in the Korean population. This study is expected to be used to identify the neurovascular pathogenesis of the most common regions of facial dermatosis in the future.
Topics: Female; Humans; Male; Asian People; Erythema; Facial Dermatoses; Republic of Korea; Telangiectasis; Healthy Volunteers; Face
PubMed: 37357648
DOI: 10.1111/srt.13344 -
Acta Dermato-venereologica Mar 2020Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also...
Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules and skinfold freckling. Legius syndrome is not characterized by an increased risk of tumours, and a correct diagnosis is important. In young children with a sporadic form of multiple café-au-lait macules with or without freckling and no other manifestations of NF1 these 2 conditions cannot be differentiated based on clinical examination. Molecular analysis of the NF1 and SPRED1 genes is usually needed to differentiate the 2 conditions. Other less frequent conditions with café-au-lait macules are Noonan syndrome with multiple lentigines, constitutional mismatch repair deficiency and McCune-Albright syndrome.
Topics: Adaptor Proteins, Signal Transducing; Cafe-au-Lait Spots; Diagnosis, Differential; Genetic Testing; Humans; Mitogen-Activated Protein Kinases; Neurofibromatosis 1; Neurofibromin 1; Noonan Syndrome; Phenotype; Signal Transduction; ras Proteins
PubMed: 32147744
DOI: 10.2340/00015555-3429 -
Le Infezioni in Medicina Mar 2018Trombiculiasis is a common but underreported ectoparasitosis characterized by an infestation of the skin by the larval stage of various species of mites belonging to the...
Trombiculiasis is a common but underreported ectoparasitosis characterized by an infestation of the skin by the larval stage of various species of mites belonging to the phylum Arthropoda, class Arachnida, subclass Acarina. Clinical manifestations consist of pruritic erythematous and urticarial macules and papules located on covered thin and glabrous skin. In recent studies Neotrombicula autumnalis larvae have been described as the possible vectors of pathogens such as Borrelia burgdorferi and Anaplasma phagocytophilum. Few reports of trombiculosis have been collected in the medical literature to date. We report a typical case of trombiculosis induced by trombiculid larvae of N. autumnalis, which are habitual parasites of various endo- and ectothermic vertebrates.
Topics: Humans; Male; Middle Aged; Sicily; Trombiculiasis
PubMed: 29525801
DOI: No ID Found -
Medicina Oral, Patologia Oral Y Cirugia... Sep 2007Oral melanoacanthoma (MA) is a rare, benign pigmented lesion, similar to cutaneous MA, characterized by hyperplasia of spinous keratinocytes and dendritic melanocytes.... (Review)
Review
Oral melanoacanthoma (MA) is a rare, benign pigmented lesion, similar to cutaneous MA, characterized by hyperplasia of spinous keratinocytes and dendritic melanocytes. The pathogenesis of oral MA remains uncertain, although its clinical behavior is suggestive of a reactive origin. The most common intraoral sites are the buccal mucosa, lip, palate and gingiva. The average age of presentation is 28 years, mainly in blacks, with a strong female predilection. The oral melanotic macule (MM) is a small, well-circumscribed brown-to-black macule that occurs on the lips and mucous membranes. The etiology is not clear and it may represent a physiologic or reactive process. The average age of presentation is 43 years, with a female predilection. A biopsy is recommended to distinguish these lesions from each other and from other oral melanocytic lesions. We depict four cases each of oral MA and MM, affecting Caucasian and Latin American mestizo patients. The clinicopathological features of these cases reflect its ample spectrum, and to the best of our knowledge, it is the first example of oral MA affecting a Caucasian boy reported in the English literature. Therefore oral MA and MM should be considered in the differential diagnosis of pigmented lesions in the oral mucosa in these populations.
Topics: Acanthoma; Adult; Child; Female; Humans; Immunohistochemistry; Male; Melanosis; Mouth Diseases; Mouth Neoplasms
PubMed: 17767102
DOI: No ID Found -
Dermatology Online Journal Mar 2021Hori nevus, also known as acquired bilateral nevus of Ota-like macules, is a form of dermal melanocytosis found most commonly in women of East Asian heritage. It...
Hori nevus, also known as acquired bilateral nevus of Ota-like macules, is a form of dermal melanocytosis found most commonly in women of East Asian heritage. It presents as discrete brown macules on the bilateral cheeks which later coalesce into confluent grey-brown macules and small patches. Herein, we report a classic case of Hori nevus and discuss the histologic findings and differential diagnosis. We also review the proposed pathophysiology, genetic considerations, and treatment options.
Topics: Adult; Asian People; Cheek; Diagnosis, Differential; Facial Neoplasms; Female; Humans; Lasers, Solid-State; Nevus, Pigmented; Skin Neoplasms
PubMed: 33865287
DOI: No ID Found -
Indian Dermatology Online Journal 2021
PubMed: 33768056
DOI: 10.4103/idoj.IDOJ_575_19 -
Dermatology Online Journal Nov 2004A 53-year-old man presented with asymptomatic, hyperkeratotic papules and hyperpigmented macules of the face and upper extremities. Treatment was initiated with topical...
A 53-year-old man presented with asymptomatic, hyperkeratotic papules and hyperpigmented macules of the face and upper extremities. Treatment was initiated with topical tretinoin and intralesional glucocorticoids. Acquired perforating disorder is a disorder of keratinization that is associated with diabetes mellitus and uremia. Classic presentation involves hyperkeratotic papules with a central core, which occur most frequently on the lower extremities. Treatment includes topical tretinoin, glucocorticoids, keratolytics, systemic retinoids and glucocorticoids, and ultraviolet B phototherapy.
Topics: Diabetes Complications; Humans; Keratosis; Male; Middle Aged; Uremia
PubMed: 15748586
DOI: No ID Found