Dermatology: Practical and Conceptual


Letter  |  Dermatol Pract Concept 2020;10(2):e2020034 1

Dermatology Practical & Conceptual

Introduction

Kindler syndrome is a rare autosomal recessive genoder-

matosis characterized by acral bullae in infancy followed 

by photosensitivity and progressive poikiloderma. The gene 

involved in Kindler syndrome is FERMT1, which encodes 

ferritin family homolog 1 protein linking actin to the under-

lying extracellular matrix.

Case Presentation

A 16-year-old boy with a history of second-degree consan-

guinity and similar complaints in a younger sibling presented 

with complaints of acral bullae in childhood, photosensitivity, 

thinning of skin involving dorsum of hands and feet, and 

redness of eyes. On examination, the patient was of average 

build and had normal physical and mental development. Der-

matological examination revealed poikiloderma involving the 

neck, cigarette paper scarring of skin of dorsum of hands and 

feet, oral leukokeratosis, conjunctivitis, gingivitis, and pal-

mar keratoderma (Figures 1-6). We performed dermoscopy 

of involved skin. Dermoscopy of skin of dorsum of hands 

shows absence of eccrine gland opening and reticular pigment 

network and presence of white structureless areas sugges-

Dermoscopy of Kindler Syndrome
Shekhar Neema,1 Preema Sinha,1 Sunmeet Sandhu,1 Sweta Mukherjee,2 S. Radhakrishnan1

1 Department of Dermatology, Armed Forces Medical College, Pune, India

2 Department of Pediatrics, Command Hospital, Pune, India

Key words: Kindler syndrome, dermoscopy, genodermatoses

Citation: Neema S, Sinha P, Sandhu S, Mukherjee S, Radhakrishnan S. Dermoscopy of Kindler syndrome. Dermatol Pract Concept. 
2020;10(2):e2020034. DOI: https://doi.org/10.5826/dpc.1002a34

Accepted: November 11, 2019; Published: April 3, 2020

Copyright: ©2020 Neema et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, 
which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Funding: None.

Competing interests: The authors have no conflicts of interest to disclose.

Authorship: All authors have contributed significantly to this publication.

Corresponding author: Shekhar Neema, MD, FEBDV, Department of Dermatology, Armed Forces Medical College, Pune-411040, India. 
Email: shkharadvait@gmail.com

Figure 1. Atrophy of skin of dorsum of both hands (cigarette paper 

scarring).

https://doi.org/10.5826/dpc.1002a34
mailto:shkharadvait@gmail.com


2 Letter  |  Dermatol Pract Concept 2020;10(2):e2020034

classic clinical features, Kindler syndrome was diagnosed. 

Genetic testing was advised for confirmation, but the patient 

refused as he could not afford the test.

Conclusions

Kindler syndrome is a rare disorder with acral bullae in 

infancy, poikiloderma, and photosensitivity as predominant 

tive of atrophy and scarring; tips of fingers show absence 

of dermatoglyphic pattern; neck skin shows background 

erythema, dotted vessels, and pigmented dots suggestive 

of poikiloderma. Dermoscopy of neck skin also shows the 

island of normal skin with a reticulate pigmentary pattern 

in between affected skin, suggestive of revertant mosaicism 

(Figures 7-10). The rest of the dermatological and systemic 

examination was within normal limits. Based on history and 

Figure 2. Poikiloderma (atrophy, telangiectasia, and hy-

perpigmentation) involving the neck.

Figure 4. Conjunctivitis.

Figure 3. Waxy keratoderma involving both palms.

Figure 5. Periodontitis.

Figure 6. Oral leukokeratosis involving gingival mucosa. Figure 7. Dermoscopy of skin of dorsum of hand shows lack of ec-

crine gland openings, structureless white areas (blue star) suggestive 

of atrophy, and scarring (DermLite DL4, polarized view).



Letter  |  Dermatol Pract Concept 2020;10(2):e2020034 3

References

1. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin. 

2010;28(1):119-124.

2. Lai-Cheong JE, Moss C, Parsons M, Almaani N, McGrath JA. 

Revertant mosaicism in Kindler syndrome. J Invest Dermatol. 

2012;132(3 Pt 1):730-732.

features. Other features are eye involvement in the form of 

conjunctivitis, conjunctival scarring, corneal erosion, and 

ectropion of lower lids; oral involvement in the form of 

gingivitis, periodontitis, premature loss of teeth, and leu-

kokeratosis; urethral meatal stenosis and urethral stricture, 

labial synechiae and vaginal stenosis, and esophageal or 

rectal mucosal stenosis. Waxy hyperkeratosis of palms and 

soles with loss of dermatoglyphics, pseudosyndactyly, and 

axillary freckling are other features. Patients with Kindler 

syndrome have a higher risk of development of squamous cell 

carcinoma [1]. Revertant mosaicism is a genetic phenomenon 

that results in spontaneous partial or complete correction of 

affected phenotype, characterized by the presence of a healthy 

patch of skin in the affected skin and can be confirmed by 

immunostaining of normal skin [2]. Light microscopy of Kin-

dler syndrome shows hyperkeratosis, epidermal atrophy, and 

focal vacuolization of basal keratinocytes, melanophages, and 

colloid bodies. Electron microscopy shows the reduplication 

of lamina densa. The identification of the loss-of-function 

mutation in the FERMT1 gene confirms the diagnosis. Our 

patient had classic clinical features and revertant mosaicism. 

Dermoscopy helped in the identification of features such as 

adermatoglyphia and revertant mosaicism and in document-

ing poikiloderma and cigarette paper scarring. Dermoscopy 

may not be required for confirmation of diagnosis of this rare 

disorder, but it may help us in delineating some subtle clinical 

features. To our knowledge, this is the first time dermoscopy 

of Kindler syndrome has been described.

Figure 8. Dermoscopy of skin of fingers shows absence of derma-

toglyphics.

Figure 9. Dermoscopy of neck skin shows background erythema, 

white polygonal areas (blue circles), dotted vessels (yellow arrow), 

and uneven pigmented dots (green arrow).

Figure 10. Dermoscopy of neck skin shows white polygonal areas 

(blue circle), pigmented dots (yellow arrow), and presence of normal 

skin with reticular pigment pattern (red star).