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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 7  |  Issue : 2  |  Page : 77-79  

A rare association of childhood alopecia areata and blepharophimosis-ptosis-epicanthus inversus syndrome: Successfully treated with diphenylcyclopropenone


1 Department of Dermatology, Amrita Institute of Medical Sciences, Kochi, Kerala, India
2 Department of Dermatology, PSG Institute of Medical Sciences and Research, Peelamedu, Coimbatore, Tamil Nadu, India

Date of Web Publication7-Jul-2015

Correspondence Address:
Soumya Jagadeesan
Department of Dermatology, Amrita Institute of Medical Sciences, Ponekkara PO, Kochi, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-7753.160118

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   Abstract 

The genetic background of alopecia areata has only recently begun to get unraveled. We report the association of a case of pediatric alopecia areata with a rare genetic syndrome-blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which responded well to topical immunotherapy with diphenylcyclopropenone. In the background of increasing evidence surfacing on the genetic basis of alopecia areata, this association may be of significance.

Keywords: Alopecia areata, blepharophimosis-ptosis-epicanthus inversus syndrome, contact immunotherapy, diphenylcyclopropenone, genetic basis


How to cite this article:
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

How to cite this URL:
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 [serial online] 2015 [cited 2020 May 27];7:77-9. Available from: http://www.ijtrichology.com/text.asp?2015/7/2/77/160118


   Introduction Top


Alopecia areata is a chronic non-scarring inflammatory disorder affecting the hair follicles, thought to be of autoimmune origin. Despite being a common cause of non-scarring alopecia, the underlying molecular and cellular patho-mechanisms are poorly understood. We report the association of a case of pediatric alopecia areata with a rare genetic syndrome - Blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome.


   Case report Top


A 6-year-old girl, second child of a third-degree consanguineous marriage, presented with patchy hair loss since 18 months involving large areas of the scalp. She also suffered from eyelid defects since birth, abnormally wide eyes with narrow palpebral fissures and drooping eyelids, which was operated and diagnosed as a blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

On examination, there was a subtotal loss of scalp hair with no atrophy or scaling. Exclamation mark hairs were seen along the borders of patches. Body hairs were also sparse, but eyebrows and teeth were normal. The palpebral fissures were narrow; there was bilaterally symmetrical ptosis and telecanthus. Linear hypopigmented surgical scars were seen along canthi. Dermoscopic examination showed yellow dots and exclamatory mark hairs in the periphery and scalp biopsy revealed peribulbar lymphocytic infiltrate [Figure 1]. Karyotyping was performed to exclude trisomies, genetic analysis was offered but declined due to financial reasons.
Figure 1: Histopathologic examination (H and E, ×400) showing the peribulbar lymphocytic infiltrate

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She was started on topical immunotherapy with diphenylcyclopropenone (DPCP). Within 4 weeks of starting, re-growth of hairs was noted. Within 4 months, there was full thickness growth of hair covering entire scalp [Figure 2] and [Figure 3]. The treatment was tapered and stopped in 10 months. She is under follow-up since 1-month, and her hairs are continuing to grow with no abnormal shedding.
Figure 2: The treatment response of alopecia areata -view of the vertex; (a) before starting treatment; (b) after 4 weeks of starting treatment; (c) 18 weeks

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Figure 3: Treatment response: Frontal view (a) after 4 weeks of treatment, (b) after 4 months. Bilaterally symmetrical ptosis, blepharophimosis, telecanthus (increased distance between the medial canthi) can be appreciated in the figure. The hypopigmented scars along the medial canthi are following surgical correction of epicanthus inversus (a fold of skin of the lower eyelid seen along the inner canthi in blepharophimosis-ptosis-epicanthus inversus syndrome)

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   Discussion Top


The genetic basis of alopecia areata is still obscure. Initial studies were candidate gene studies, but recently, genome-wide association studies have identified several susceptibility loci for alopecia areata. [1]

Blepharophimosis-ptosis-epicanthus inversus syndrome is a rare autosomal dominant disorder characterized by a complex eyelid malformation with/without premature ovarian failure. Mutations in the forkhead box L2 (FOXL2) gene encoding a forkhead transcription factor are implicated though recently, mutations outside forkhead domain have also been reported. [2] Mutations of the FOXL2 gene have not been associated with alopecia areata, but other forkhead genes are known to be linked with alopecia including FOXN1, FOXA2, FOXP3. A recent study has found single nucleotide polymorphisms in the promoter regions of the FOXP3 gene to be associated with alopecia areata. [3]

The association of BPES with alopecia areata has never been reported individually, but Beysen et al. has done a genetic analysis of a Belgian BPES family where one of the siblings was reported to have alopecia areata. [2],[4] BPES being very rare, this may be of significance. Moreover, the younger age of onset, extensive involvement, and faster progression is different from other cases of pediatric alopecia areata. This assumes importance in view of the association of alopecia areata with other chromosomal anomalies like Down syndrome, where currently the role of MX 1 gene is being postulated.

Our patient was started on topical immunotherapy with DPCP considering the severity, fast progression, and failure of other conventional therapies. The exact mechanism is unclear, action on vascular endothelial growth factor and alteration in the peribulbar CD4/CD8 ratio is postulated. The efficacy and safety of immunotherapy with DPCP in pediatric alopecia areata has been well documented. [5]


   Conclusion Top


We report the association of alopecia areata with a rare genetic syndrome-BPES, which may be significant considering the surfacing evidence on the genetic basis of alopecia areata.

 
   References Top

1.
Jabbari A, Petukhova L, Cabral RM, Clynes R, Christiano AM. Genetic basis of alopecia areata: A roadmap for translational research. Dermatol Clin 2013;31:109-17.  Back to cited text no. 1
    
2.
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.  Back to cited text no. 2
    
3.
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.  Back to cited text no. 3
    
4.
Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, et al. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum Mol Genet 2008;17:2030-8.  Back to cited text no. 4
    
5.
Schuttelaar ML, Hamstra JJ, Plinck EP, Peereboom-Wynia JD, Vuzevski VD, Mulder PG, et al. Alopecia areata in children: Treatment with diphencyprone. Br J Dermatol 1996;135:581-5.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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