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Two additional features of Kindler syndrome

  • Author(s): Aboud, Khalid Al, MD;
  • Hawsawi, Khalid Al, MD;
  • Ramesh, V, MD
  • et al.
Main Content

Kindler syndrome: two additional features
Khalid Al Aboud MD, Khalid Al Hawsawi MD, and V Ramesh MD
Dermatology Online Journal 9(3): 20

From the Department of Dermatology, King Faisal Hospital, Taif, Saudi Arabia. amoa65@hotmail.com

Abstract

Kindler syndrome is a hereditary condition that combines the features of blistering and photosensitivity in infancy and early childhood with progressive poikiloderma. We report additional features observed in one affected individual.


In a recent publication we had described eight cases of Kindler syndrome, a form of acrokeratotic poikiloderma, in two related sibships across seven generations of a family from Saudi Arabia.[1] Some additional features were seen in one affected individual during follow up that were not described earlier.


Case Report


Figure 1aFigure 1b
Patches of normal skin in the neck not involved by telangectasias (Fig. 1a). Large patch of normal skin (circle) in the dorsum of right foot (Fig. 1b)

Figure 2
Graft-like lesion on the left palm.

A 22-year-old man known to have Kindler syndrome was attending our clinic for followup. He was receiving symptomatic treatment and periodic counseling about his daily activities. During one of these clinic visits some additional features were noted. These included widespread, multiple, small circular areas of normal skin of varying sizes, not involved by telangectases (Fig. 1a). Also, there were patches of normal skin (Fig. 1b) on the dorsum of both feet that were not involved by atrophic changes. In addition, on the medial aspect of the left palm over the hypothenar eminence was a 4 cm circular patch of normal appearing skin, similar to that seen over the dorsum of the hand (Fig. 2). Skin biopsy of this area revealed normal skin structure with hair follicles.


Comment

The finding of islands of normal skin in areas affected by hereditary disease is an example of revertant mosaicism described in patients with autosomal, recessively-inherited disorders.[2] In such areas it has been hypothesized that a clone of keratinocytes with normal functions gives rise to this clinical picture. However, this does not explain the replacement of palmar skin by that of skin similar to the dorsum of the hand. The reason for this is unclear, but may be related to genetic factors operating in Kindler syndrome. A parallel can be drawn between this observation and the finding of nonplantar skin on the plantar surface of the foot in a three year old boy.[3] The authors hypothesized, based on animal studies, that there was a disruption in the development of proper orientation during morphogenesis.

References

1. Al Aboud K, Al Hawsawi K, Al Aboud D, Al Githami A. Kindler syndrome in a Saudi kindred. Clin Exp Dermatol 2002;27(8):673-6.

2. Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol 1999;41(2):143-61.

3. Dragan L, Lorincz AL, Medenica MM, Phillips SB. Graft-like plantar lesion secondary to possible dorsal - to ventral cutaneous transposition. J Am Acad Dermatol 1999;40(5):769-71.

© 2003 Dermatology Online Journal