21 citations
,
October 1980 in “Gastroenterology” This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.
5 citations
,
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.
2 citations
,
May 2007 in “Pediatrics in Review” This case study reports a teenage boy with juvenile polyposis syndrome, presenting with microcytic anemia, growth failure, and rectal bleeding, leading to the diagnosis following colonoscopy and histologic examination of colonic polyps.
June 2025 in “Dermatologic Surgery” This article reviews multiple noncutaneous manifestations of pityriasis rubra pilaris, such as subungual hyperkeratosis and hair loss, but reports no new clinical results.
5 citations
,
November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
26 citations
,
September 1969 in “The American journal of medicine” This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.
36 citations
,
July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
2 citations
,
June 2019 in “The Journal of Dermatology” This report describes two cases of aplasia cutis congenita with hair collar signs and hemangioma, which may suggest neural tube defects, although imaging showed no bone or neural tissue abnormalities.
3 citations
,
December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
January 2023 in “Skin appendage disorders” This article describes two cases of plica neuropathica, a rare hair condition involving severe matting, and discusses possible contributing factors and diagnosis methods while reporting no new scientific results.
4 citations
,
January 2020 in “Dermatology Online Journal” In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
9 citations
,
January 2007 in “Gynecological Endocrinology” This case report presents the first known instance of combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2 in a patient, exploring potential mechanisms for their interrelation.
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.
3 citations
,
June 2002 in “PubMed” This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.
15 citations
,
April 1970 in “PubMed” This letter describes a case of a 22-year-old woman with ichthyosis serpentina and related symptoms, suggesting it as a variant form of ichthyosis associated with bamboo hair, without necessarily including atopic features.
8 citations
,
August 2019 in “ACR Open Rheumatology” This review explores the biomechanical factors and signaling systems, like Wnt, involved in the pathophysiology of psoriatic nail lesions and reports no new results.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
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.
January 2024 in “Ankara City Hospital Medical Journal” This case report details a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, emphasizing diagnostic challenges due to non-specific clinical criteria and documenting symptoms like inflammatory arthritis, malar rash, and hematological abnormalities.
September 2018 in “Gynecology & Obstetrics” In a meta-analysis of 210 hair tourniquet syndrome cases, this study reported that 44.2% involved the penis, 40.4% the toes, and 8.6% fingers, highlighting the condition's potential severity and underreporting, especially in infants and some adults with cognitive impairments.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
2 citations
,
April 1970 in “Archives of Dermatology” This report discusses a case of ichthyosis serpentina, suggesting it as a variant of ichthyosis associated with bamboo hair, although atopy may not be a necessary component.
March 2024 in “Indian Journal of Dermatology” In this case report, a 42-year-old male diagnosed with Cronkhite-Canada syndrome presented symptoms like chronic diarrhea, significant weight loss, skin hyperpigmentation, alopecia, and nail dystrophy, with endoscopic findings revealing numerous gastrointestinal polyps.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” The authors concluded that steatocystoma multiplex is a rare dermatological condition with poor treatment outcomes, emphasizing the importance of early recognition and psychological support for affected individuals.
19 citations
,
October 1996 in “International Journal of Dermatology” This study concluded that pseudopelade is an autosomal dominant condition, distinct from other forms of alopecia, characterized by atrophic hair follicle loss and notable familial association.
October 2007 in “Revue du Rhumatisme”
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
May 1999 in “Medicine & Science in Sports & Exercise” This case report discusses an elite female gymnast who experienced delayed menarche likely due to exercise-associated amenorrhea and diagnosed wrist conditions, recommending a treatment of reduced weight-bearing and dietary review.
6 citations
,
January 2011 in “European Journal of Dermatology” This article discusses monilethrix, a rare human hair dysplasia caused by mutations in hair keratins, but reports no new clinical findings.
June 2025 in “British Journal of Dermatology” In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.