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Year : 2013  |  Volume : 58  |  Issue : 4  |  Page : 330
Follicular occlusion triad associated with reticulate pigmentary disorder: Is there a genetic linkage?

Department of Dermatology and STD, University College of Medical Sciences (University of Delhi) and Associated Guru Teg Bahadur Hospital, Delhi, India

Date of Web Publication25-Jun-2013

Correspondence Address:
Vijay Gandhi
Department of Dermatology and STD, University College of Medical Sciences (University of Delhi) and Associated Guru Teg Bahadur Hospital, Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.114001

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How to cite this article:
Gandhi V, Verma P, Yadav P. Follicular occlusion triad associated with reticulate pigmentary disorder: Is there a genetic linkage?. Indian J Dermatol 2013;58:330

How to cite this URL:
Gandhi V, Verma P, Yadav P. Follicular occlusion triad associated with reticulate pigmentary disorder: Is there a genetic linkage?. Indian J Dermatol [serial online] 2013 [cited 2022 May 17];58:330. Available from:


A 35-year-old, married man, carpenter by occupation, presented to our outpatient department with recurrent eruptions of acne-like lesions over face and painful deep boils (yielding foul smelling pus discharge) over the buttocks and thighs for the past 10 and 5 years, respectively. He had recurrent, painful pus discharging nodules over the scalp. He denied any history pertaining to systemic involvement. In addition, he had multiple light-colored, flat, non-progressive lesions all over the body since birth. There was a history of similar lesions in one of the patient's sister (among the 3 other siblings). Patient was a known case of chronic obstructive kidney disease for the past 10 years. There was a history of renal calculi involving left and right ureter, 10 and 15 years back, respectively, for which he was operated on both the occasions, following which he developed deranged renal function.

Patient had received treatment in the form of multiple courses of non-steroidal anti-inflammatory drugs and oral antibiotics with transient improvement. Examination revealed multiple polyporus pseudocomedones over face, neck, axilla, and upper trunk along with deep ice-pick and depressed scars, suggestive of healed lesions [Figure 1]. Multiple, tender nodules with sinuses discharging foul-smelling, purulent discharge was prominent on both the buttocks [Figure 2] and thighs. Multiple follicular papules were present over the scalp with scanty serous discharge [Figure 3]. Numerous hypopigmented macules ranging in size from 2 × 2 mm to 1 × 1 cm were present over trunk, bilateral upper, and lower limbs [Figure 4]. Rest of the mucocutaneous and systemic examination was unremarkable.
Figure 1: Polyporus comedones and ice - pick scars over face

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Figure 2: Discharging sinuses over buttocks

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Figure 3: Nodule over the vertex of scalp with sinus

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Figure 4: Numerous hypopigmented macules ranging in size from 2 × 2 mm to 1 × 1 cm were present over back

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Laboratory investigations revealed a low hemoglobin (8.6 g/dl) and deranged renal functions (Blood Urea −58 mg%, Serum creatinine −2.5 mg%). Urine for routine and microscopy did not reveal any abnormality. Biopsy from a representative hypopigmented macule from trunk showed a focal decrease in melanin in the basal layer of the epidermis. Accordingly, a diagnosis of follicular occlusion triad with dyschromatosis universalis hereditaria was made. Patient has been started on oral isotretinoin (0.5 mg/kg). Unfortunately, the patient lost follow up.

The association of hidradenitis suppurativa with severe or conglobate acne, and perifolliculitis capitis has been termed as follicular occlusion triad. [1],[2] A new triad has been described by Loo, et al. in the form of hidradenitis suppurativa, Dowling-Degos, and multiple epidermal cysts. [3] Hidradenitis suppurativa is a misnomer, as it is not primarily a disorder of sweat gland. It is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hair and apocrine glands. Currently, it is widely accepted to be an inflammatory disorder originating from hair follicle with secondary involvement of apocrine glands. [4] Autosomal dominant mode of inheritance has been proposed; however, the transmission rate is less than 50%, possibly due to polygenic inheritance, rigid disease definition, incomplete penetrance, and hormonal influence. [4] Recently, a study done in a large Chinese family with hidradenitis suppurativa identified a novel locus on chromosome 1p 21.1-1 q25.3, but this region was too wide to find the disease gene and further studies are required in families to identify the putative gene. [4] Dowling Degos disease, a reticulate pigmentary disorder of the flexures has been found to be associated with hidradenitis suppurativa on occasions. [3],[5],[6],[7],[8] A primary follicular pathology in both the conditions has been postulated to be the reason for their coexistence; however, no genetic association has been defined between the two. [3] Nonetheless, to the best of our knowledge, dyschromatosis symmetrica hereditaria concurrent with follicular occlusion triad has not been described. Reticulate pigmentary disorders are a rather controversial topic in the recent literature, the genetic basis which is largely elusive; nevertheless, Dowling-Degos disease, dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, and reticulate pigmentation of Kitamura have been proposed to be spectral. The genetic defects in DDD have been identified in these disorders namely KRT5 gene, gene locus mapping to chromosome 17 p13.3. [9],[10],[11] Dyschromatosis symmetrica hereditaria has been linked to 6 q24.2-q25.2 gene in two Chinese families. [12] Autosomal recessive inheritance with linkage to 12 q21-q23 gene has also been described. [13] Dyschromatosis symmetrica hereditaria is caused by mutations in the ADAR1 gene on chromosome 1 q21.3 that encodes a double-stranded RNA-specific adenosine deaminase. [14],[15],[16] Although Loo, et al. [3] have described the association of DDD and HS, we report here an association between DSH (a dyschromatosis related to DDD) and FOT (a triad that encompasses HS). Thus, the overlap of the possible causative genes between hidradenitis suppurativa and DSH might not just be a coincidence.

   References Top

1.Fitzsimmons JS, Fitzsimmons EM, Gilbertt G. Familial hidradenitis suppurativa: Evidence in favour of single gene transmission. J Med Genet 1984;21:281-5.  Back to cited text no. 1
2.Dixit R, George R, Jacob M, Sudarsanam TD, Danda D. Dowling-Degos disease, hidradenitis suppurativa and arthritis in mother and daughter. Clin Exp Dermatol 2006;31:454-6.  Back to cited text no. 2
3.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. 3
4.Gao M, Wang P, Cui Y, Yang S, Zhang Y, Lin D, et al. Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1-1q25.3. J Invest Dermatol 2006;126:1302-6.  Back to cited text no. 4
5.Kleeman D, Trüeb RM, Schmid-Grendelmeier P. Reticular pigmented anomaly of the flexures. Dowling-Degos disease of the intertrigo type in association with acne inversa. Hautarzt 2001;52:642-5.  Back to cited text no. 5
6.Li M, Hunt MJ, Commens CA. Hidradenitis suppurativa, Dowling Degos disease and perianal squamous cell carcinoma. Australas J Dermatol 1997;38:209-11.  Back to cited text no. 6
7.Fenske NA, Groover CE, Lober CW, Espinoza CG. Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation. J Am Acad Dermatol 1991;24:888-92.  Back to cited text no. 7
8.Weber LA, Kantor GR, Bergfeld WF. Reticulate pigmented anomaly of the flexures (Dowling-Degos disease): A case report associated with hidradenitis suppurativa and squamous cell carcinoma. Cutis 1990;45:446-50.  Back to cited text no. 8
9.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. 9
10.Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WH. A heterozygous frameshift mutation in the v1 domain of keratin 5 in a family with dowling-degos disease. J Invest Dermatol 2007;127:298-300.  Back to cited text no. 10
11.Li CR, Xing QH, Li M, Qin W, Yue XZ, Zhang XJ, et al. A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17 p13.3. J Invest Dermatol 2006;126:1297-301.  Back to cited text no. 11
12.Xing QH, Wang MT, Chen X, Feng GY, Ji HY, Yang JD, et al. A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. Am J Hum Genet 2003;73:377-82.  Back to cited text no. 12
13.Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nürnberg G, Becker C, et al. Dyschromatosis universalis hereditaria: Evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet 2008;73:566-72.  Back to cited text no. 13
14.Kondo T, Suzuki T, Mitsuhashi Y, Ito S, Kono M, Komine M, et al. Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes. J Dermatol 2008;35:395-406.  Back to cited text no. 14
15.Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003;73:693-9.  Back to cited text no. 15
16.Zhang XJ, Gao M, Li M, Li M, Li CR, Cui Y, et al: Identification of a locus for Dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21. J Invest Dermatol 2003;120:776-80.  Back to cited text no. 16


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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