Clinical translation of hidradenitis suppurativa genetic studies requires global collaboration

2021 ◽  
Author(s):  
A.J. Jabbour ◽  
K.R. van Straalen ◽  
A. Colvin ◽  
E.P. Prens ◽  
L. Petukhova
Keyword(s):  
Hidradenitis Suppurativa ◽  
Clinical Translation ◽  
Global Collaboration ◽  
Genetic Studies

scholarly journals Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature

2021 ◽  
pp. 530-536
Author(s):  
Ya-Nin Nokdhes ◽  
Thanachat Rutnumnoi ◽  
Poramin Patthamalai ◽  
Charussri Leeyaphan
Keyword(s):  
Hidradenitis Suppurativa ◽  
Phenotypic Expression ◽  
Punch Biopsy ◽  
Autosomal Dominant Disorder ◽  
Genetic Studies ◽  
Clinical Criteria ◽  
Essentially Normal ◽  
Degos Disease ◽  
Interfollicular Epidermis ◽  
The Face

Dowling-Degos disease (DDD) is an autosomal dominant disorder with variable phenotypic expression. Classically, DDD is characterized by progressive reticulate hyperpigmentation on flexures with perioral pitted scars and comedone-like hyperkeratotic papules. Follicular DDD is a rare variant which was introduced by Singh et al. [<i>Indian J Dermatol Venereol Leprol</i>. 2013 Nov–Dec;79(6):802–4]. Follicular DDD differs from other variants because of its notable comedone-like hyperkeratotic hyperpigmented papules and a distinct histopathology which demonstrates pigmented filiform and branching rete pegs originating at the follicular infundibulum with many epidermal horn cysts while the interfollicular epidermis is essentially normal. Hereby, we present a case of follicular DDD with hidradenitis suppurativa (HS). A 37-year-old Thai man presented with slowly progressive hyperpigmented comedone-like papules on the face, neck, axillae, upper trunk, and buttocks with perioral pitted scars. Punch biopsy from a comedonal lesion on his back was consistent with follicular DDD. He also had recurrent painful nodules and abscess on the back, groin, and buttock which matched the clinical criteria for the diagnosis of HS. To date, a paucity of concurrent DDD with HS has been reported. Recent genetic studies speculate a shared pathophysiologic mechanism of DDD and HS.

Moving beyond the “LDL hypothesis”

VASA ◽  
2015 ◽  
Vol 44 (5) ◽  
pp. 333-340 ◽  
Author(s):  
Christian Werner ◽  
Ulrich Laufs
Keyword(s):  
Ldl Cholesterol ◽  
Causal Relation ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Clinical Trial Data ◽  
Randomised Clinical Trial ◽  
Trial Data ◽  
Low Density Lipoprotein Cholesterol ◽  
Genetic Studies ◽  
Statin Drug

Abstract. Summary: The term “LDL hypothesis” is frequently used to describe the association of low-density lipoprotein cholesterol (LDL-cholesterol, LDL-C) and cardiovascular (CV) events. Recent data from genetic studies prove a causal relation between serum LDL-C and CV events. These data are in agreement with mechanistic molecular studies and epidemiology. New randomised clinical trial data show that LDL-C lowering with statins and a non-statin drug, ezetimibe, reduces CV events. We therefore believe that the “LDL-hypothesis” has been proven; the term appears to be outdated and should be replaced by “LDL causality”.

Neuropsychological intermediate phenotypes as tools for genetic studies in schizophrenia

2009 ◽  
Vol 42 (05) ◽  
Author(s):  
H Konnerth ◽  
I Giegling ◽  
AM Hartmann ◽  
J Genius ◽  
A Ruppert ◽  
...  
Keyword(s):  
Genetic Studies ◽  
Intermediate Phenotypes

The Use of Medical Record Linkage for Population and Genetic Studies

1969 ◽  
Vol 08 (01) ◽  
pp. 07-11 ◽  
Author(s):  
H. B. Newcombe
Keyword(s):  
Record Linkage ◽  
Large Scale ◽  
Medical Record Linkage ◽  
Canadian Province ◽  
Genetic Studies ◽  
Parental Characteristics ◽  
Family Histories ◽  
The Family ◽  
Large Populations ◽  
Machine Readable

Methods are described for deriving personal and family histories of birth, marriage, procreation, ill health and death, for large populations, from existing civil registrations of vital events and the routine records of ill health. Computers have been used to group together and »link« the separately derived records pertaining to successive events in the lives of the same individuals and families, rapidly and on a large scale. Most of the records employed are already available as machine readable punchcards and magnetic tapes, for statistical and administrative purposes, and only minor modifications have been made to the manner in which these are produced.As applied to the population of the Canadian province of British Columbia (currently about 2 million people) these methods have already yielded substantial information on the risks of disease: a) in the population, b) in relation to various parental characteristics, and c) as correlated with previous occurrences in the family histories.

Surgical treatment of extensive perianal hidradenitis

2020 ◽  
Vol 99 (9) ◽  
Keyword(s):  
Surgical Treatment ◽  
Hidradenitis Suppurativa ◽  
Soft Tissues ◽  
Case Reports ◽  
Radical Excision ◽  
Skin Flaps ◽  
Perianal Area ◽  
Apocrine Glands ◽  
Patient Preparation ◽  
Two Stages

Introduction: Perianal hidradenitis suppurativa is a chronic recurrent inflammatory, suppurative, and fistulising disease of apocrine glands, adjacent anal canal and soft tissues. Perianal area is the second most common affected area after axilla. There are three grades of the disease. Hidradenitis suppurativa represents a chronic, recurrent, deep-seated folliculitis resulting in abscesses, followed by the formation of sinus tracts and subsequent scarring. Perianal hidradenitis suppurativa is the last and the most serious grade of the disease and a specific access is needed for patient preparation and surgical treatment alone. The currently preferred method of treatment for patients with extensive perianal hidradentitis is excision and closure with combination of skin flaps, primary suture and skin graft in one or two stages. Case reports: There are three case reports of perianal hidradenitis suppurativa in this article. The local and overall initial treatment of patients followed by a radical excision and closure with a rotation skin flaps and skin grafts is described. The final results were satisfactory, with no recurrence or serious complication.

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