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This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.

This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.

This case report describes an unusual variant of Turner Syndrome in a 20-year-old female that required comprehensive medical and psychological care, including hormonal therapy that resolved symptoms like alopecia.

This case report describes a 56-year-old male with chronic watery diarrhea, hyperpigmentation, and alopecia, in whom colonoscopy revealed multiple polypoidal lesions from the distal transverse colon to the rectum.

This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.

This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.

This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.

In this case study, a 53-year-old female with multiple autoimmune symptoms was diagnosed with Mixed Connective Tissue Disease, confirmed by specific antibodies, and showed significant clinical improvement after one year of treatment.

This case report describes a 6-year-old boy with Bloom syndrome characterized by distinct facial skin changes, delayed development, and a high frequency of sister chromatid exchanges.

This report describes a case of SAPHO syndrome likely triggered by escalated dosing of infliximab in a 21-year-old woman, highlighting the complex nature of infliximab-induced adverse events, and suggesting a potential autoimmune basis involving two distinct pathophysiologies for SAPHO syndrome.

This study observed distinct differences in hair characteristics between individuals with cardio-facio-cutaneous syndrome and Costello syndrome, highlighting the role of the RAS pathway in these RASopathies and aiding clinical diagnosis.

This case report underlines the importance of considering alternative diagnoses like ovarian steroid cell tumors in adolescent females with PCOS-like symptoms when standard treatments fail, highlighting the need for thorough evaluation and early intervention.

This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.

This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This case report describes a 32-year-old Filipino female with mixed connective tissue disease who sequentially developed distinct autoimmune disorders over seven years, highlighting the complexities in diagnosis and management of overlap syndromes.

This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.

In this case study, a 78-year-old Japanese woman with Cronkhite-Canada syndrome experienced mesenteric lymphadenopathy, which reduced in size after treatment with the corticosteroid prednisolone. This suggests that mesenteric lymphadenopathy, though uncommon in CCS, may respond to steroid therapy.

Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.

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.

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.

This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.

This case report describes a 45-year-old woman with an SLE-SSc overlap syndrome who experienced significant improvement in symptoms after tailored immunosuppressive therapy including prednisone and mycophenolate mofetil.

This case report describes a postmenopausal woman with a rare instance of ovarian fibrothecoma exhibiting virilizing features, who presented with symptoms such as excess hair growth and clitoromegaly.

This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.

This case series reports favorable outcomes for children with Parry Romberg Syndrome who underwent facial fat-grafting, showing it as a safe and well-tolerated procedure with no complications or relapses observed.

In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.

This case study describes a 17-year-old girl initially thought to be experiencing a Crohn disease exacerbation, but ultimately found to have a trichobezoar causing small bowel obstruction.

This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.