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CORRESPONDENCE |
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| Year : 2021 | Volume
: 66
| Issue : 1 | Page : 100-101 |
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| Follicular dowling-degos disease and blepharophimosis-ptosis-epicanthus inversus syndrome: A chance or significant association |
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Pramila Kumari1, Swastika Suvirya1, Atin Singhai2, Kiranpreet Malhotra3, Sucheta Pathania1
1 Department of Dermatology, Venereology and Leprosy, King George's Medical University (KGMU), Lucknow, Uttar Pradesh, India
2 Department of Pathology, Venereology and Leprosy, King George's Medical University (KGMU), Lucknow, Uttar Pradesh, India
3 Department of Pathology, Dr. RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| Date of Web Publication | 1-Feb-2021 |
Correspondence Address:
Swastika Suvirya
Department of Dermatology, Venereology and Leprosy, King George's Medical University (KGMU), Lucknow, Uttar Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijd.IJD_184_19
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How to cite this article:
Kumari P, Suvirya S, Singhai A, Malhotra K, Pathania S. Follicular dowling-degos disease and blepharophimosis-ptosis-epicanthus inversus syndrome: A chance or significant association. Indian J Dermatol 2021;66:100-1 |
How to cite this URL:
Kumari P, Suvirya S, Singhai A, Malhotra K, Pathania S. Follicular dowling-degos disease and blepharophimosis-ptosis-epicanthus inversus syndrome: A chance or significant association. Indian J Dermatol [serial online] 2021 [cited 2021 Feb 28];66:100-1. Available from: https://www.e-ijd.org/text.asp?2021/66/1/100/308489 |
Sir,
Dowling-Degos disease (DDD) is a rare, autosomal dominant genodermatosis with variable phenotypic expression characterized by reticular hyperpigmentation of flexures. Rarely, it may involve the face, scalp, genitalia, and wrists.[1] Follicular lesions resembling chloracne and perioral pit may occur in association with classic DDD.[1] Among many variants, the true follicular variant is very rare. We report a rare and interesting combination of pure follicular DDD with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). A 29-year-old female was presented with asymptomatic folliculocentric hyperpigmented macules along with tiny, discrete keratotic, follicular pits over bilateral eyelids, extending up to the ears [Figure 1]a since early childhood. There were keratosis pilaris-like lesions and few follicular pits over the abdomen and thighs [Figure 1]b and [Figure 1]d. She also suffered from eyelid abnormalities since birth; abnormally wide-spaced eyes with narrow palpebral fissures and drooping eyelids, which were diagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome type II and partially operated [Figure 1]c. On examination, frontalis muscle was overactive with bilaterally symmetrical ptosis, telecanthus, absent lid crease, and narrow palpebral fissures. Linear hypopigmented surgical scars were seen along medial canthi. Routine investigations were within normal limits. There was neither evidence of reticulate pigmentation in flexures nor family history of DDD or BPES. A skin biopsy from keratotic follicular lesion revealed dilated keratin filled follicular indentation and filiform projection of rete ridges depicting increased melanisation at their tips and sides [Figure 2]. The interfollicular epidermis was uninvolved. Diagnosis of follicular DDD with BPES (type II) was made. | Figure 1: Clinical photographs showing (a) hyperpigmented follicular pits and macules over eyelids and adjoining areas of cheeks (b) keratosis pilaris like lesions and few pitted scars over thigh (c) bilateral blepharophimosis, ptosis, telecanthus, and hypopigmented scars along the medial canthi (d) comedone like papules in the axilla
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 | Figure 2: Section shows dilated keratin filled follicular indentation with thinning of suprapapillary plates (asterix) and filiform projection of rete ridges (H and E, ×40). Increased melanisation at tips and sides of rete ridges (inset) can be seen (H and E, ×400)
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In DDD, the underlying pathology is the loss of functional mutation in the keratin 5 gene.[1] However, several reports of its association with comedonal lesions, hidradenitis suppurativa, and predominant infundibular involvement on histology have indicated the presumptive role of follicular pathology in its origin.[2]
BPES is a rare disorder of autosomal dominant inheritance, characterized by a complex eyelid malformation with/without premature ovarian failure. Mutations in the forkhead box L2 (FOXL2) gene encoding a forkhead transcription factor is recognized as underlying pathology though mutations outside the forkhead domain have also been reported recently.[3] The reported association of alopecia areata with BPES in literature, along with the role of other forkhead genes in the pathogenesis of alopecia areata may be of some significance as it may be indicative of a linkage between BPES and follicular pathology.[4],[5] The rare findings of true follicular DDD with BPES in our case may be simply due to a chance existence of two rare disorders together or more importantly due to some common linkage to follicular pathology. Interestingly, the distribution of follicular DDD lesions was predominantly confined to the bilateral orbital area. Unfortunately, karyotyping was not done in this patient due to financial constraints and lack of facilities. The purpose of this presentation is to highlight the co-occurrence of these two very rare genodermatoses and to identify any unusual but characteristic follicular variant of DDD. Moreover, we could not find any previous report of follicular DDD in association with BPES. In conclusion, the underlying pathomechanism of this finding is not entirely clear but we speculate a linkage between follicular pathology and forkhead gene mutation. Detailed research and genetic analysis are still needed to further ascertain this interesting and rare incidental or associative phenomenon.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
 References | |  |
| 1. | 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.  [ PUBMED] [Full text] |
| 2. | Loo WJ, Rytina E, Todd PM. Hidradenitis suppurativa, Dowling Degos and multiple epidermal cysts: A new follicular occlusion tetrad. Clin Exp Dermatol 2004;29:622-4. |
| 3. | Haghighi A, Verdin H, Haghighi-Kakhki H, Piri N, Gohari NS, De Baere E. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. Mol Vis 2012;18:211-8. |
| 4. | Jagadeesan S, Balasubramanian P, Panicker VV, Anjaneyan G, Thomas J. A rare association of childhood alopecia areata and blepharophimosis-ptosis-epicanthus inversus syndrome: Successfully treated with diphenylcyclopropenone. Int J Trichol 2015;7:77-9. [ PUBMED] [Full text] |
| 5. | Conteduca G, Rossi A, Megiorni F, Parodi A, Ferrera F, Tardito S, et al. Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with alopecia areata. Clin Exp Med 2014;14:91-7. |
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