4 citations
,
August 2018 in “Journal of pediatric neurology” This article reviews Becker's nevus syndrome, covering its symptoms, causes, and cosmetic treatment options, without presenting new clinical findings.
2 citations
,
October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
32 citations
,
April 1994 in “Journal of the American Academy of Dermatology” This report presents the second known case of erythema nodosum without typical associated conditions, which could be linked to mycoplasma infection, although no testing was conducted to confirm this in the patient.
7 citations
,
January 2016 in “Case reports in pediatrics” This study reports that antiandrogen medication, specifically 50 mg/day of spironolactone, showed an adequate clinical response in treating breast hypoplasia associated with Becker's nevus syndrome.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
21 citations
,
June 2010 in “Anais Brasileiros De Dermatologia” This case report is the first in Brazilian literature to document Becker nevus syndrome, featuring Becker's nevus, ipsilateral breast hypoplasia, and scoliosis in a 14-year-old girl.
15 citations
,
September 2018 in “Medicine” This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
14 citations
,
January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
7 citations
,
January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
1 citations
,
June 2022 in “Curēus” This case study highlights the unique occurrence of Papillon-Lefévre syndrome in two siblings from a consanguineous family, emphasizing the potential role of genetic factors in the disease's development.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
50 citations
,
November 2010 in “Otolaryngologic Clinics of North America” This review discusses the oral manifestations associated with hematologic conditions and nutritional deficiencies, without presenting new research results; it emphasizes the impact of blood disorders and vitamin deficiencies on oral health.
148 citations
,
May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
December 2023 in “Indian Journal of Endocrinology and Metabolism” In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.
August 2022 in “Journal of Comprehensive Pediatrics” This case report describes a 15-year-old girl with trichorhinophalangeal syndrome type 1 and a rare non-ossifying fibroma in her femur, suggesting a potential link between the genetic condition and bone lesions.
This review synthesizes existing research on autologous platelet-rich plasma for treating androgenetic alopecia, suggesting its promise with standardized protocols and personalized approaches, but reports no new clinical results.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
This case report describes a rare instance of pilomatricoma, a benign tumor of the hair follicle, accompanied by striae distensae on a young man's flank, emphasizing the uniqueness of this presentation for timely diagnosis and care due to its potential for malignant transformation.
August 2024 in “Clinical Case Reports” This case study reports on a rare benign skin tumor known as Pilomatricoma in the lower left orbital region of a 32-year-old male, highlighting its characteristic histopathological features and emphasizing the importance of surgical excision for successful treatment and minimal recurrence risk.
June 2024 in “Annals of Medicine and Surgery” Surgeons should know about pilomatricoma for accurate diagnosis, even though it's rare.
1 citations
,
December 2012 in “Clinical and Experimental Dermatology” This report describes a rare case of tumoral calcinosis presenting as a slow-growing mass on the scalp in an Afro-Caribbean man, with histopathology revealing calcium deposits and associated tissue changes.
2 citations
,
June 2023 in “Medicine” This case report describes the occurrence of a very rare disease, MTPC, in the elbow of a man who does not match the typical etiology, highlighting its academic significance.
March 2022 in “Folia Medica Indonesiana” This case report described a facial hairline tumor initially diagnosed as a sebaceous cyst but ultimately confirmed as a rare Proliferating Pilar Tumor with focal malignancies upon histopathological examination.
May 2020 in “JOJ Dermatology & Cosmetics” This report describes a rare case of Trichostasis Spinulosa on the heel, an uncommon location for this type of lesion.
2 citations
,
June 2003 in “American Journal of Dermatopathology” This article reports a rare case of squamous cell carcinoma with miliary calcification in a cutaneous horn, suggesting possible involvement of calcium-binding proteins in this unique presentation.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.