Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Net Letter
88 (
3
); 445-445
doi:
10.25259/IJDVL_471_19
pmid:
35146980

Successful treatment of early-onset hidradenitis suppurativa with acitretin in an infant with a novel mutation in PSENEN gene

Chongqing Key Laboratory of Child Infection and Immunity, Chongqing, China
Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China
China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing, China
Department of Dermatology, Children’s Hospital of Chongqing Medical University, Chongqing, China
Corresponding author: Dr. Hua Wang, Department of Dermatology, Children’s Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Rd., Liang Lu Kou, Yuzhong District, Chongqing, 400014, China. huawang@hospital.cqmu.edu.cn
Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Chen A, Chen Z, Bai X, Luo X, Wang H. Successful treatment of early-onset hidradenitis suppurativa with acitretin in an infant with a novel mutation in PSENEN gene. Indian J Dermatol Venereol Leprol 2022;88:445.

Sir,

Hidradenitis suppurativa (HS), is a chronic inflammatory disease of follicular occlusion, leading to recurrent nodules, abscesses, draining sinuses and scar formation in the apocrine gland areas. The etiology of the condition is unclear; more than one-third of patients have a family history. To date, thirty-four mutations have been reported in three genes encoding the γ-secretase complex: presenilin (PSEN1), presenilin enhancer 2 (PSENEN) and nicastrin (NCSTN). Here we report a Chinese infant with an early-onset hidradenitis suppurativa who bears a novel mutation in PSENEN gene and his response to the treatment with acitretin.

A boy born to a non-consanguineous family was referred to our department at the age of 17 months. The rash first appeared on the occipital area when he was 11-month-old and then gradually spread on the face and chest without pruritus. Physical examination showed a large number of follicle-based inflammatory papules, pustules and closed comedones in the posterior neck, face and anterior chest [Figure 1]. The general health of the boy was otherwise normal. His mother had developed 2-4 mm sized open comedones and pittted scars on her face and neck, at puberty. No significant pigmentation was found in the flexures.

Figure 1:: The skin lesions of the proband on posterior neck before treatment: A large number of red papules, pustules and closed comedones could be seen.

Genetic tests were conducted after obtaining informed consent. Whole-exome sequencing was done, that found a novel splice site deletion of PSENEN gene in the proband and his mother: c.62-1 (IVS2)delG, this mutation was absent in his unaffected father [Figure 2a]. We then performed Sanger sequencing of cDNA identified that the proband and his mother were both heterozygous for the c.60_66. del G variant [Figure 2b], that caused a frame-shift and premature end of the stop codon at exon 3 (P.F23LfsX10).

Figure 2a:: Sequence of genomic DNA, showing c.62-1 (IVS2) delG in proband (III: 1) and his mother (II: 1)
Figure 2b:: Sequence of genomic cDNA, showing c.60_66.del G variant in proband (III: 1) and his mother (II: 1)

The treatment we gave the patient initially was cefixime (2.5 mg/kg per day) and topical application of fusidic acid cream and adapalene gel for one month, but the response to treatment was poor. After obtaining parental informed consent, oral acitretin in an initial dose of 0.5 mg/kg per day was conducted under regular monitoring of liver and kidney function and serum lipid level monthly, X-ray for bones semiannually. After four months of treatment with acitretin, the rashes almost disappeared [Figure 3]. A follow-up of laboratory tests showed no abnormalities, except for the symptoms of dry mouth after six months of use.

Figure 3:: The improved skin lesions in the proband after treatment with oral acitretin for 4 months

Hidradenitis suppurativa usually occurs after puberty, prepubertal onset is thought to be rare, it is reported only in six (2%) of patients before the age of 11 years.1 Some reports stated that the low number of children diagnosed with this condition may be due to the apocrine glands in infants and children that have not been fully developed. This may lead to misdiagnosis such as bacterial folliculitis.2

PSENEN gene (NM_172341) is located on chromosome 19 containing four exons which are required for the function of γ-secretase. Till now, fourteen different PSENEN mutations have been reported, five of which are from China c.66delG and c.279delC were found in 2010, Wang et al.3; c.194T>G and c.167-2A>G were found in 2016, Zhou et al.4; c.229_230insCACC was from unpublished data, Zhang et al.5 [Figure 4]. In our study, premature stop codon at exon 3 altered the PSENEN protein, affected the protease activity of γ-secretase, and disrupted the γ-secretase Notch signaling pathway, that lead to epidermal and follicular hyperkeratosis and epidermal cyst formation.

Figure 4:: Summary of mutations in PSENEN gene reported in China, the novel mutation found in this study was highlighted in red

Treatment of hidradenitis suppurativa is challenging. Acitretin is indicated in the early stage. But the use of acitretin has been limited in children due to its potential side-effects. Recently, a retrospective study including three Chinese children on continuous acitretin monotherapy for more than ten years revealed long-term safety and efficacy.4 The good response and relative lack of adverse events in our patient following oral acitretin lends proof to consider that acitretin can be a promising agent in children with hidradenitis suppurativa.

Acknowledgment

We thank the patient and her parents, who really cooperated in this study.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

This study was supported by the Natural Science Foundation of China (8170120529).

Conflicts of interest

There are no conflicts of interest.

References

  1. , . Early-onset hidradenitis suppurativa. Clin Exp Dermatol. 2001;26:501-3.
    [CrossRef] [Google Scholar]
  2. , , , . Hidradenitis suppurativa-acne inversa: A relevant dermatosis in paediatric patients. Br J Dermatol. 2015;173:1328-30.
    [CrossRef] [Google Scholar]
  3. , , , , , , et al. Gamma-secretase gene mutations in familial acne inversa. Science. 2010;330:1065.
    [CrossRef] [Google Scholar]
  4. , , , , , . Novel mutations in PSENEN gene in two Chinese acne inversa families manifested as familial multiple comedones and Dowling-Degos disease. Chin Med J (Engl). 2016;129:2834-9.
    [CrossRef] [Google Scholar]
  5. , , , , . Comorbidities or different entities? Phenotype variability associated with PSENEN mutations. Br J Dermatol. 2019;180:221-2.
    [CrossRef] [Google Scholar]
  6. , , , , , , et al. Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China. J Dermatol. 2018;45:1003-8.
    [CrossRef] [Google Scholar]

Fulltext Views
773

PDF downloads
154
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections