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GlossaryHypermobility Spectrum Disorder

group of conditions with overly flexible joints causing pain and instability

Hypermobility Spectrum Disorder (HSD) is a group of conditions characterized by joints that move beyond the normal range of motion, often leading to pain, instability, and an increased risk of injury. It encompasses a range of symptoms from benign joint hypermobility to more severe forms that can affect daily functioning and quality of life. HSD is distinct from other connective tissue disorders like Ehlers-Danlos Syndrome, although they can share similar features.

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Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners

research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.

January 1999 in “American Journal of Medical Genetics Part A”

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations , February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

1 citations , April 2023 in “Frontiers in Genetics”

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management

research Congenital Adrenal Hyperplasia

100 citations , May 2011 in “Journal of Pediatric and Adolescent Gynecology”

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

research Madarosis: A marker of many Maladies

36 citations , January 2012 in “International Journal of Trichology”

Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.

research Endocrine-skin interactions

46 citations , July 1988 in “Journal of The American Academy of Dermatology”

Hormone imbalances can cause specific skin changes, which may help in early detection of endocrine disorders.

research Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

157 citations , May 2021 in “Endocrine Reviews”

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

7 citations , May 2019 in “European Journal of Human Genetics”

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

research Zinc and Zinc Transporters in Dermatology

4 citations , December 2022 in “International Journal of Molecular Sciences”

Zinc is crucial for skin health and treating various skin disorders.

Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters

research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

1 citations , May 2023 in “European Journal of Human Genetics”

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

research Bachmann–Bupp syndrome and treatment

July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology”

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

Retinal Vasculitis With Libman-Sacks Endocarditis as Presenting Features of a Systemic Lupus Erythematosus With Antiphospholipid Antibody Syndrome Patient

research E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient

April 2024 in “Rheumatology”

A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.

research Trichoblastoma with sebaceous and sweat gland differentiation

12 citations , May 2001 in “British journal of dermatology/British journal of dermatology, Supplement”

A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.

research Rheumatologic Manifestations of Pregnancy

3 citations , November 2010 in “Rheumatic Diseases Clinics of North America”

Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.

Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment

research Nonclassic Congenital Adrenal Hyperplasia

49 citations , January 2010 in “International Journal of Pediatric Endocrinology”

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.

A Systematic Scoping Review and Conceptual Analysis of New-Onset Fibromyalgia Manifestations After Non-Hospitalized COVID-19: Empirics, Definitions, Methodologies, Pathophysiology, Mapping of Literature, and Knowledge Gaps

research A Systematic Scoping Review and Conceptual Analysis of New-Onset Fibromyalgia Manifestations After Non-Hospitalized COVID-19: Empirics, Definitions, Methodologies, Pathophysiology, Mapping of Literature, and Knowledge Gaps

October 2025

New-onset fibromyalgia after COVID-19 is poorly understood, needing better definitions and studies.

Literature Review on Atopic Dermatitis and Related Studies

research LITERATURE REVIEW

May 2004 in “Pediatric Dermatology”

Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.

research Ehlers-Danlos syndrome: From bedside to bench

January 2024 in “Frontiers research topics”

Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.

research A Systematic Scoping Review and Conceptual Analysis of New-Onset Fibromyalgia Manifestations After Non-Hospitalized COVID-19: Empirics, Definitions, Methodologies, Pathophysiology, Mapping of Literature, and Knowledge Gaps

November 2025 in “Preprints.org”

New-onset fibromyalgia after COVID-19 is poorly understood and needs more research.

Proteomic Analysis of Two Stem Cell Secretomes Used in Combination in a Topical Skin Care Product Demonstrating Efficacy in a Double-Blinded, Vehicle-Controlled Clinical Trial

research Proteomic Analysis of Two Stem Cell Secretomes Used in Combination in a Topical Skin Care Product That Has Demonstrated Efficacy in a Double-Blinded, Vehicle-Controlled Clinical Trial

March 2026 in “Preprints.org”

The combined stem cell secretome in the skin care product effectively reduces inflammation and promotes tissue regeneration.

research Photobiomodulation therapy in management of cancer therapy-induced side effects: WALT position paper 2022

31 citations , August 2022 in “Frontiers in Oncology”

Photobiomodulation therapy helps manage cancer treatment side effects but needs more research for optimization.

research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB

June 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT

January 2025 in “JCEM Case Reports”

Enzyme replacement therapy may help alleviate symptoms in complex cases like this.

research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].

1 citations , January 1986 in “PubMed”

The boy's symptoms suggest a possible new medical condition.

Buschke-Ollendorff Syndrome: Clinical Features and Genetic Insights

research Buschke-Ollendorff syndrome

1 citations , April 2016 in “British Journal of Dermatology”

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat

3 citations , January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences”

A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.

research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

21 citations , May 2024 in “American Journal of Medical Genetics Part A”

Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.