Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

787
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
787
Sex-linked Disorders01:43

Sex-linked Disorders

107.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
107.4K
Bipolar Disorder01:30

Bipolar Disorder

490
Bipolar disorder is a chronic mental health condition marked by significant mood fluctuations, including episodes of mania and depression. Elevated energy levels, heightened mood or irritability, impulsive behavior, reduced sleep needs, rapid speech, racing thoughts, inflated self-esteem, and distractibility characterize mania. Individuals with bipolar disorder often alternate between depressive and manic states, with periods of emotional stability lasting an average of six months to a year.
490
Oppositional Defiant Disorder01:30

Oppositional Defiant Disorder

445
A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...
445
Pleiotropy01:33

Pleiotropy

42.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
42.9K
Pedigree Analysis01:35

Pedigree Analysis

88.5K
Overview
88.5K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Type I and II Interferon Signalling Characterizes the Transcriptional Landscape of Sweet Syndrome.

Experimental dermatology·2026
Same author

Meta-inflammation in Hidradenitis suppurativa: from pathogenic evidence to therapeutic approaches.

Frontiers in immunology·2026
Same author

Real-World Long-Term Effectiveness and Safety of Secukinumab in Psoriasis: Up to 7 Years of Evidence from the Italian Landscape Psoriasis (IL PSO) Multicenter Retrospective Study.

Dermatology and therapy·2026
Same author

Editorial: Exploring cutaneous drug-related and drug-associated adverse events: from clinical insight to therapeutic management.

Frontiers in medicine·2026
Same author

Role of the IL-15 pathway in vitiligo: Mechanistic insights and therapeutic implications.

The Journal of investigative dermatology·2026
Same author

Tinea barbae following ruxolitinib cream application in a vitiligo patient: a case report.

Frontiers in medicine·2026

Related Experiment Video

Updated: Dec 16, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.4K

PAPA spectrum disorders.

Giovanni Genovese1,2, Chiara Moltrasio2, Simone Garcovich3

  • 1Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia
|July 4, 2020
PubMed
Summary
This summary is machine-generated.

Pyogenic arthritis, pyoderma gangrenosum (PG), and acne (PAPA) syndrome and related disorders stem from PSTPIP1 gene mutations. Early recognition of skin and joint symptoms is crucial for managing these rare autoinflammatory conditions.

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K
Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
09:13

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder

Published on: April 22, 2015

16.9K

Related Experiment Videos

Last Updated: Dec 16, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.4K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K
Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
09:13

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder

Published on: April 22, 2015

16.9K

Area of Science:

  • Genetics and Immunology
  • Dermatology and Rheumatology

Background:

  • Pyogenic arthritis, pyoderma gangrenosum (PG), and acne (PAPA) syndrome is an autoinflammatory disorder caused by PSTPIP1 gene mutations.
  • PAPA syndrome presents with distinct cutaneous and articular manifestations.
  • A spectrum of related disorders, including PASH, PAPASH, PsAPASH, PASS, PAC, and PAMI, share overlapping clinical features and PSTPIP1 gene involvement.

Purpose of the Study:

  • To highlight the spectrum of PAPA-related disorders.
  • To emphasize the importance of dermatological recognition of these rare conditions.
  • To discuss current and future therapeutic strategies.

Main Methods:

  • Review of genetic mutations in PSTPIP1.
  • Clinical characterization of PAPA syndrome and related disorders.
  • Analysis of current treatment modalities.

Main Results:

  • PAPA syndrome is linked to PSTPIP1 gene mutations.
  • The PAPA spectrum encompasses several syndromes with overlapping symptoms.
  • PG, acne, and HS can be indicators of these underlying conditions.

Conclusions:

  • Dermatologists must be aware of PAPA syndrome spectrum disorders, recognizing PG, acne, and HS as potential cutaneous signs.
  • Current treatments include corticosteroids, immunosuppressants, and biologics (IL-1 and TNFα inhibitors).
  • Pathogenesis-driven therapies are anticipated for improved management of these autoinflammatory conditions.