October 2020 in “M/C Journal” This article explores how societal views on "freaks" have shifted from congenital anomalies to cosmetic surgery-induced appearances, with the authors suggesting this may reflect changing beauty norms and the commodification of uniqueness.
1 citations
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July 2025 in “Journal of Human Immunity” This study found that administering minoxidil and PGE2 to pregnant mice with 22q11.2 deletion syndrome models corrected multiple developmental anomalies, including thymus growth and parathyroid positioning, by targeting prenatal mesenchymal differentiation.
44 citations
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May 1998 in “PubMed” In this study, a specific retinoic acid receptor antagonist caused severe craniofacial anomalies in mouse fetuses when administered early in pregnancy, but not limb anomalies, highlighting developmental stage-specific roles of retinoic acid.
2 citations
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January 2025 in “Medicine” This study in Saudi female patients with hyperprolactinemia found that pituitary imaging is often indicated due to a high prevalence of pituitary anomalies, with prolactin levels showing moderate accuracy in predicting adenomas and a suggested cutoff level of >38.71 ng/mL for diagnosis.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
January 2025 in “BMC Nephrology” This study reported that 83.1% of patients with end-stage renal disease on hemodialysis experienced skin conditions, with xerosis affecting 63.6%, pruritis 36.4%, and notable occurrences of nail and oral anomalies, indicating a need for targeted dermatological management to improve patients' quality of life.
96 citations
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April 2007 in “Journal of Investigative Dermatology” In this study, co-grafting human keratinocytes with murine dermal papilla-enriched cells produced hair follicle-like structures, but without regular hair formation, suggesting anomalous folliculogenesis.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
24 citations
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June 2015 in “Journal of Investigative Dermatology” This study observed that epidermal-specific deletion of aPKCλ in mice disrupts hair follicle stem cell quiescence, leading to altered hair follicle cycling and skin anomalies.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
9 citations
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December 2004 in “Archives of Pathology & Laboratory Medicine” This report discusses a case of a rare congenital neck mass called a "wattle" or congenital cervical tragus, emphasizing its histological features and its association with other branchial arch anomalies.
7 citations
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October 2020 in “Wiener medizinische Wochenschrift” This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.
5 citations
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August 1925 in “Archives of dermatology” This article presents a case of an 8-year-old boy with Recklinghausen's disease showing features such as café-au-lait spots, alopecia, and developmental anomalies, but reports no new findings beyond observation.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
3 citations
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December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
2 citations
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February 2016 in “African Journal of Traditional Complementary and Alternative Medicines” In this study, prolonged ingestion of linseed in rabbits was observed to be safe, showing no significant weight gain or anatomical anomalies in liver and kidney biopsies.
2 citations
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January 2005 in “The Japanese Journal of Veterinary Dermatology” In this study, Pomeranians with non-illness, generalized alopecia did not exhibit adrenal or pituitary abnormalities, suggesting a breed-specific hormonal pattern as a potential cause rather than a functional adrenal anomaly.
June 2026 in “Indian Dermatology Online Journal” In this case report, a 20-year-old man with a birthmark was identified as having a supernumerary nipple, a developmental anomaly, using dermoscopy to distinguish it from other pigmented skin lesions such as melanocytic nevus or basal cell carcinoma.
March 2025 in “International Journal of Trichology” This case report describes a 14-year-old female patient with monilethrix who developed female androgenetic alopecia at age 23, and found that oral minoxidil treatment improved her androgenetic alopecia while leaving the underlying structural hair anomalies of monilethrix unchanged.
October 2024 in “Andrology” This study investigated paternal drug exposure using FDA data and identified significant associations with reproductive health risks, including congenital anomalies linked to immunosuppressive drugs, and emphasized specific risk combinations like biologics and abortion, diazepam and small for date baby, and finasteride and cryptorchidism.
November 2013 in “Institutional Repositories DataBase (IRDB)” In this study, γ-ray irradiation in mice during the first telogen phase led to decreased hair follicle density and pigmentation anomalies, suggesting damage to stem cells and progenitors for keratinocytes and melanocytes.
January 2011 in “InTech eBooks” This article reviews the development, classification, and embryology of hypospadias and reports no new findings; the authors highlight its unknown cause and discuss associated anatomical anomalies.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
June 2025 in “Revista Brasileira de Fisioterapia Pelvica” In this case report, four sessions of the Broad Ligament Maneuver were associated with improvements in ovarian function and regression of PCOS symptoms, including normalizing menstrual flow and decreasing hirsutism.
1 citations
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November 2016 in “Congenital Anomalies” This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.
14 citations
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January 2010 in “Dermatology” This study reports five cases of congenital triangular alopecia featuring a central island of short terminal hair, with the cause remaining unknown.
3 citations
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January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
January 2023 in “Brazilian Journals Editora eBooks” People with cleft lip and palate often have respiratory problems.
April 2018 in “Nasza Dermatologia Online” This case report describes an 8-year-old child with Down's syndrome who presented with eruptive syringomas on the face and hand.
25 citations
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January 2006 in “Journal of the European Academy of Dermatology and Venereology” This study reported that a new extraction technique using cautery and forceps is a simple, effective treatment and diagnostic procedure for eruptive vellus hair cysts, with no recurrence after 4 months.