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Year : 2015  |  Volume : 16  |  Issue : 3  |  Page : 188-190

Ichthyosis bullosa of Siemens sans blistering with extracutaneous features: A subtype or association?

Pediatric Dermatology Unit, Rita Skin Foundation, Salt Lake, Kolkata, West Bengal, India

Date of Web Publication10-Jul-2015

Correspondence Address:
Abhijit Saha
46/4 Swarnamoyee Road, Berhampore, Murshidabad . 742 101, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.160658

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How to cite this article:
Sarkar P, Saha A, Malakar S. Ichthyosis bullosa of Siemens sans blistering with extracutaneous features: A subtype or association?. Indian J Paediatr Dermatol 2015;16:188-90

How to cite this URL:
Sarkar P, Saha A, Malakar S. Ichthyosis bullosa of Siemens sans blistering with extracutaneous features: A subtype or association?. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Aug 8];16:188-90. Available from: http://www.ijpd.in/text.asp?2015/16/3/188/160658


Bullosa of Siemens (IBS) is a rare blistering disorder with underlying pathology of epidermolytic hyperkeratosis characterized by hyperkeratosis, vacuolar degeneration of granular and upper spinous layer and filament clumping. This incurable entity can be diagnosed on clinical and histopathological ground but high index of suspicion is required because of its rarity and masquerading presentation with congenital bullous ichthyosiform erythroderma (CBIE). Electron microscopy and immunofluorescence studies are further options to pick up this diagnostically challenging disorder. If still unanswered, molecular analysis is the last resort.

A 10-year-old boy of a nonconsanguineous marriage was brought by the parents with scales covering almost whole of his body surface area, present since 2 months of age. On an inspection, we noticed peculiar denuded areas of skin peeling [Figure 1]. Further extensive literature search confirms the skin peeling is nothing but mauserung phenomenon or molting [Figure 2]. These findings prompted us to ask for any preceding history of blistering which is surprisingly absent in our case. According to the parents, skin peeling has gradually increased over the years. Further interrogation failed to elicit a history suggestive of erythroderma or palmoplantar hyperhidrosis or any positive family history.
Figure 1: Typical facial features with large ear and pinched up nose

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Figure 2: Mauserung phenomenon

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Further meticulous examination revealed scaling and molting present all over the body sparing face and flexural area. Flexural area rather characterized by visible hyperkeratosis with typical rippled pattern. Palm and sole were not involved. Hair, nail, and mucosa were within normal limit. Apart from the skin involvement, other characteristics noticed were pinched up nose, large ears, and small external genitalia [Figure 1] and [Figure 3].
Figure 3: Small external genetalia

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Parents did not allow us to take a biopsy. Lack of facilities of our set up restricted us to do genetic study. On the basis of clinical pictures, a provisional diagnosis of IBS was made; however, one important point of contradiction to the diagnosis was absence of blistering throughout the course of the disease.

Treatment offered to the kid in the form of emollient and topical 0.05% tazarotene gel. Unfortunately, we lost follow-up of the case.

Bullosa of Siemens is a very unusual and unfamiliar disease entity. Till date, very few has been reported and according to Akiyama et al., till 2005 only 19 kindreds of IBS has been reported in English dermatological literature.[1] It is in 2009, Koley et al. from India has reported a case of IBS without blistering; very similar to ours to a great extent.[2]

Though the disease is predominantly inherited in autosomal dominant fashion sporadic cases are not uncommon. In our case, the occurrence of a similar disease in generation prior to the affected generation was not observed. It may be presumed that the disease has occurred as a result of sporadic mutation here.

This disorder is a lees common and milder entity in comparison with its closest mimicker major differentiating clinical features from CBIE are absence of blisters at birth, absence of erythroderma, less severe hyperkeratosis, and presence of typical mauserung phenomenon. On histopathological ground, epidermolysis is confined to granular and upper spinous layer of the epidermis in IBS in contrast to CBIE where it involves deeper suprabasal layer also. This stratification can reliably be explained by the expression of epithelial cytokeratin 2e in these two layers only in the former.[3],[4] Clinic-pathological correlation clinches diagnosis in many cases. Still in doubtful cases mutational analysis becomes the last resort.

Presence of exracutaneous features in our case further stimulates our thought process to fit it with any particular syndrome. Our inability to find out any such even after extensive literature search raises the possibility of mare association; requires validation.

Unfortunately, there is no permanent solution of this condition. Topical emollient is the last resort and 0.05% tazarotene gel showed a satisfactory result in a recent report.[5] Hopefully, in near future, gene therapy will contribute to the treatment of IBS.

To conclude, IBS is a rare disorder, and our index case is more distinctive in few ways like absence of blistering which is unusual of IBS and is sporadic in nature. Moreover, its association with large ear, pinched up nose, and hypogonadism might be a syndromic association or subtype of IBS about which we are still in oblivion.

  References Top

Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, et al. Ichthyosis bullosa of Siemens: Its correct diagnosis facilitated by molecular genetic testing. Br J Dermatol 2005;152:1353-6.  Back to cited text no. 1
Koley S, Salodkar A, Gupta S, Bhanke A, Ujawane A, Bisati S. Ichthyosis bullosa of Siemens sans history of blistering: An interesting case report. J Pak Assoc Dermatologists 2009;19:171-4.  Back to cited text no. 2
Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, et al. Ichthyosis bullosa of Siemens: Report of a family with evidence of a keratin 2e mutation, and a review of the literature. Br J Dermatol 1999;140:689-95.  Back to cited text no. 3
Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Br J Dermatol 2001;145:330-5.  Back to cited text no. 4
Rajiv S, Rakhesh SV. Ichthyosis bullosa of Siemens: Response to topical tazarotene. Indian J Dermatol Venereol Leprol 2006;72:43-6.  Back to cited text no. 5
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