Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page Small font size Default font size Increase font size Users Online: 1391

 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 22  |  Issue : 3  |  Page : 264-266

Dowling Degos Disease in a child: A rare case report from Northeast India


Department of Dermatology, Venereology and Leprology, Regional Institute of Medical Sciences, Imphal, Manipur, India

Date of Submission10-Feb-2019
Date of Decision26-Apr-2020
Date of Acceptance30-Mar-2021
Date of Web Publication30-Jun-2021

Correspondence Address:
Nandita Bhattacharjee
Department of Dermatology, Venereology and Leprology, Regional Institute of Medical Sciences, Imphal - 795 004, Manipur
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_12_19

Rights and Permissions
  Abstract 


Dowling–Degos disease (DDD) is a rare genodermatosis with autosomal dominant inheritance. It is characterized by reticulate pigmentation of flexures, comedo-like follicular papules, and perioral pitted scars. Here, we report a 3-year-old female child presenting with hyperpigmentation of the external genitalia, intergluteal fold, and armpits with follicular keratotic papules over the neck. Histopathological examination showed hyperkeratosis, irregular acanthosis, papillomatosis, and basal layer pigmentation in the epidermis with elongated and branched rete pegs and relatively more melanin concentration in the tips of the rete pegs. The diagnosis of DDD was made. This case is reported due to the unusual early onset and involvement of external genitalia.

Keywords: Dowling–Degos disease, early onset, hyperpigmented patch


How to cite this article:
Bachaspatimayum R, Bhattacharjee N, Das P. Dowling Degos Disease in a child: A rare case report from Northeast India. Indian J Paediatr Dermatol 2021;22:264-6

How to cite this URL:
Bachaspatimayum R, Bhattacharjee N, Das P. Dowling Degos Disease in a child: A rare case report from Northeast India. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Jul 24];22:264-6. Available from: https://www.ijpd.in/text.asp?2021/22/3/264/319939




  Introduction Top


Dowling Degos disease (DDD) is a rare reticulate pigmentary genodermatosis with autosomal dominant inheritance. It was first described by Dowling and Freudenthal[1] in 1938 and later clinically and histopathologically labeled by Jones and Grice[2] in 1978. The onset is generally postpubertal, specifically in adulthood. It is usually characterized by innumerable, progressive, and pigmented macules in reticulate pattern over flexural areas as well as comedo-like follicular lesions and perioral acneiform pitted scars. Other reticulate pigmentary disorders may have similar clinical features but can be differentiated histopathologically. Here, we report a case of DDD with early onset in a 3-year-old female child.


  Case Report Top


A 3-year-old female child, born of a nonconsanguineous marriage, was presented by her mother with a complaint of pigmentation of the genitalia, intergluteal region, and armpits. Her mother first noticed it 2 months back. The lesions were asymptomatic but progressive in nature. There was no significant medical history and her family history was unremarkable. On examination, a single, diffuse, hyperpigmented patch was present over the labia minora, perineum, intergluteal fold with hyperpigmented macules over the labia majora, and groins [Figure 1]. It will be a good idea to add the images if they have been added as supportive material. Since reticulated pattern of macules is essential for the diagnosis which is not seen in the [Figure 1]. Cutaneous examination of the neck revealed multiple follicular keratotic papules [Figure 2]. Palms, soles, mucosae, hair, and nails were spared. Her general physical examination and systemic examinations were unremarkable.
Figure 1: Diffuse hyperpigmented patch over the labia minora, perineum, intergluteal fold with hyperpigmented macules over the labia majora, and groins

Click here to view
Figure 2: Multiple follicular keratotic papules over the neck

Click here to view


Her complete blood count showed low hemoglobin (10 g/dl). Other laboratory investigations including random blood sugar, liver function test, renal function test, urine routine, thyroid function test, and serum Vitamin D level were all within normal limit. Skin biopsy was done both from hyperpigmented patch and keratotic papule. Histopathological examination of both the samples showed irregular acanthosis, mild-to-moderate hyperkeratosis, papillomatosis, and increased pigmentation of the basal layer of the epidermis. The rete pegs were elongated and branched with more concentration of melanin in the tips of the rete pegs [Figure 3]. The dermis showed a few dilated, congested blood vessels. Based on the clinical and histopathological findings, the diagnosis of DDD was made. Oral iron supplementation and topical steroid were advised for the patient. The patient was then lost to follow-up.
Figure 3: Histopathological examination showed hyperkeratosis, irregular acanthosis, and papillomatosis in the epidermis with elongated and branched rete pegs and increased pigmentation in the tips of the rete pegs (H and E, ×40)

Click here to view



  Discussion Top


DDD, also known as “reticulate pigmented anomaly of flexures,”[2] is a rare autosomal dominant genodermatosis with variable penetrance but may happen sporadically. There is a female preponderance seen in various literatures.[2],[3] In our case, the patient was a female child which is consistent with the previous reports. The onset is usually following puberty,[4] but our patient was a 3-year-old child with noticeable early onset of the disease. Most of the patients present with a family history of similar illness suggestive of an autosomal dominant trait.[2],[4] On the contrary, none of the family members were affected in our case. The etiopathogenesis of DDD is not well established. The loss-of-function mutations in the keratin 5 gene have been reported.[5] Follicular pathology is also postulated in the pathogenesis.[6]

DDD is characterized by acquired, asymptomatic, progressive, reticulate hyperpigmented macules with a flexural distribution over the axillae, groin, neck, face, arms, trunk, and rarely, genital and perianal area.[4] Other cutaneous findings include comedo-like hyperkeratotic follicular papules on the neck, perioral pitted acneiform scars, epidermoid or trichilemmal cysts,[3] rarely hypopigmented macules in the generalized variant,[7],[8] and associated hidradenitis suppurativa.[9] In our patient, asymptomatic reticulate hyperpigmented macules and patches were present over the neck, axillae, groins, labia minora, perineum, and intergluteal fold. It was associated with follicular keratotic papules over the neck, but perioral pitted scars were absent.

Histopathologically, DDD is characterized by moderate hyperkeratosis, basal layer pigmentation, elongated rete ridges with more concentration of melanin at the tips (antler-like pattern), dermal melanosis, and occasional horn cysts.[3] The histopathological examination in our case showed irregular acanthosis, mild-to-moderate hyperkeratosis, increased pigmentation of the basal layer, and elongated and branched rete ridges with more concentration of melanin in the tips.

DDD may share similar clinical features with other reticulate pigmentary disorders, thereby increasing the diagnostic difficulty. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) present with mottled hypopigmented and hyperpigmented macules without any papules.[4] In our patient, similar lesions were not present. Histopathologically, DUH and DSH can be differentiated from DDD.[7] Reticulate acropigmentation of Kitamura is characterized by reticulate, atrophic, pigmented macules over acral parts with palmar pits.[4] These findings were not present in our patient. Galli–Galli disease can be differentiated from DDD by the presence of acantholysis.[7]

Till date, no successful treatment is available for DDD. Topical steroid, hydroquinone, adapalene, tretinoin, and systemic retinoids had been tried with variable response. Remarkable improvement following treatment with erbium: yttrium-aluminum-garnet laser has been reported.[10] In our patient, topical steroid was advised, but the patient was lost to follow-up.

This case is reported due to the rare early onset in a 3-year-old child with uncommon involvement of the external genitalia and intergluteal fold without any positive family history.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's guardian has given consent for her images and other clinical information to be reported in the journal. The patient's guardian understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Dowling GB, Freudenthal W. Acanthosis Nigricans. Proc R Soc Med 1938;31:1147-50.  Back to cited text no. 1
    
2.
Jones EW, Grice K. Reticulate pigmented anomaly of the flexures. Dowing Degos disease, a new genodermatosis. Arch Dermatol 1978;114:1150-7.  Back to cited text no. 2
    
3.
Kim YC, Davis MD, Schanbacher CF, Su WP. Dowling-Degos disease (reticulate pigmented anomaly of the flexures): A clinical and histopathologic study of 6 cases. J Am Acad Dermatol 1999;40:462-7.  Back to cited text no. 3
    
4.
Taieb A, Morice-Picard F, Ezzedine K. Genetic disorders of pigmentation. In: Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D, editors. Rook's Textbook of Dermatology. 9th ed. UK: Wiley-Blackwell; 2016. p. 70.1-70.17.  Back to cited text no. 4
    
5.
Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, et al. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet 2006;78:510-9.  Back to cited text no. 5
    
6.
Singh S, Khandpur S, Verma P, Singh M. Follicular Dowling Degos disease: A rare variant of an evolving dermatosis. Indian J Dermatol Venereol Leprol 2013;79:802-4.  Back to cited text no. 6
[PUBMED]  [Full text]  
7.
Wu YH, Lin YC. Generalized Dowling-Degos disease. J Am Acad Dermatol 2007;57:327-34.  Back to cited text no. 7
    
8.
Wititsuwannakul J, Noppakun N. Generalized Dowling-Degos disease: Case reports. Ann Dermatol 2013;25:360-4.  Back to cited text no. 8
    
9.
Loo WJ, Rytina E, Todd PM. Hidradenitis suppurativa, Dowling-Degos and multiple epidermal cysts: A new follicular occlusion triad. Clin Exp Dermatol 2004;29:622-4.  Back to cited text no. 9
    
10.
Wenzel J, Tappe K, Gerdsen R, Uerlich M, Philipp-Dormston W, Bieber T, et al. Successful treatment of Dowling-Degos disease with Er: YAG laser. Dermatol Surg 2002;28:748-50.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case Report
Discussion
References
Article Figures

 Article Access Statistics
    Viewed278    
    Printed0    
    Emailed0    
    PDF Downloaded20    
    Comments [Add]    

Recommend this journal