Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene

2013 ◽  
Vol 149 (6) ◽  
pp. 762 ◽  
Author(s):  
Angelo V. Marzano ◽  
Valentina Trevisan ◽  
Marco Gattorno ◽  
Isabella Ceccherini ◽  
Clara De Simone ◽  
...  
2014 ◽  
Vol 2014 ◽  
pp. 1-13 ◽  
Author(s):  
Müzeyyen Gönül ◽  
Bengu Cevirgen Cemil ◽  
Havva Ozge Keseroglu ◽  
Havva Kaya Akis

Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are “circumferential skin creases Kunze type” and “unusual type of pachyonychia congenita or a new syndrome”; autoinflammatory diseases include “chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome,” “pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome,” and “pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) syndrome”; tumors include “acquired reactive digital fibroma,” “onychocytic matricoma and onychocytic carcinoma,” “infundibulocystic nail bed squamous cell carcinoma,” and “acral histiocytic nodules”; unclassified disorders include “saurian papulosis,” “symmetrical acrokeratoderma,” “confetti-like macular atrophy,” and “skin spicules,” “erythema papulosa semicircularis recidivans.”


2020 ◽  
Vol 60 (1) ◽  
Author(s):  
Miguel Fernando García‐Gil ◽  
Juan Monte Serrano ◽  
Mar Ramirez‐Lluch ◽  
Alberto Valero Torres ◽  
María Teresa López‐Giménez ◽  
...  

2015 ◽  
Vol 40 (4) ◽  
pp. 367-372 ◽  
Author(s):  
T. Zeeli ◽  
G. Padalon-Brauch ◽  
E. Ellenbogen ◽  
A. Gat ◽  
O. Sarig ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Pragya Shrestha ◽  
Geetika Sabharwal ◽  
Gisoo Ghaffari

Although Hyper-IgE Syndrome (HIES) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and skin infections. Symptoms are usually nonspecific such as recurrent abscesses, folliculitis, and pneumonias along with skeletal abnormalities. Careful history of susceptibility to skin and lung infections, thorough family history, and findings on physical exam can guide towards the diagnosis of this often-eluded condition. Early optimization of therapy with prophylactic antibiotics can prevent recurrent infections and future complications and improve quality of life and longevity of survival. We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.


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