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Pretibial dystrophic epidermolysis bullosa pruriginosa:
A rare case report in a child with low
B Vijaya, SR Narahari1, Pallavi Deka, GV Manjunath
Department of Pathology, JSS Medical College and Hospital, JSS University, Mysore, Karnataka, 1Department of Dermatology, Institute of Applied Dermatology, Kasargod, Kerala, India Dystrophic epidermolysis bullosa (DEB), a rare form of EB, is characterized by defects in Type VII collagen which is encoded by COL7A1 gene located on chromosome 3p21. A 12-year-old female with low intelligent quotient presented with intensely pruritic multiple violaceous papules which were coalescent at areas on both the shins. Histopathological examination showed epidermis displaying focal thinning. A subepidermal cleft was seen beneath the basement membrane zone. The dermis showed a linear array of keratinous cysts with intervening diffuse lymphohistiocytic infiltrate. Features were suggestive of pretibial DEB. Since it was associated with intense itching, the lesion was termed as pretibial DEB pruriginosa which has combined elements of exclusive pretibial lesions and intense itching. An appropriate clinical history and increased awareness of histopathological features will enable earlier diagnosis and suitable management.
Key words: Dystrophic, epidermolysis bullosa, pretibial, pruriginosa
on the leg for the past 10 years to the Institute of Applied Dermatology, Kasargod. She had taken multiple treatments, from allopathic to ayurvedic, with no satisfying result. She was also on oral Vitamin Epidermolysis bullosa (EB) is a heterogeneous group of noninflammatory disorders, usually inherited as B supplements. Routine blood and urine investigations autosomal dominant or recessive form, characterized revealed no abnormality.
by the development of blisters or erosions following the minor trauma of the skin. The clinical presentation On examination, multiple violaceous papules which ranges from the minimal involvement of the hands and were coalescent at areas were present on the anterior feet to severe, life‑threatening, generalized blistering with shin [Figure 1]. Lesions were refractory to treatment. dystrophic changes, and extra cutaneous involvement. The clinical differential diagnoses were lichen planus, Dystrophic EB (DEB), a rare type, is characterized by lichen amyloidosis, and prurigo. Initial biopsy reported defects in Type VII collagen which is encoded by elsewhere revealed appearances of lichen plano‑pilaris COL7A1 gene located on chromosome 3p21.
ADDRESS FOR CORRESPONDENCE Dr. B Vijaya,
Department of Pathology, JSS Medical College and Hospital, A 12‑year‑old female, with low mental intelligent JSS University, Mysore, Karnataka, India. quotient (IQ), presented with intense pruritic lesions This is an open access article distributed under the terms of the Creative Access this article online
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For reprints contact: email@example.com How to cite this article:Vijaya B, Narahari SR, Deka P, Manjunath GV.
Pretibial dystrophic epidermolysis bullosa pruriginosa: A rare case report in a child with low intelligent quotient. Indian J Paediatr Dermatol 2016;17:32-4.
2016 Indian Journal of Paediatric Dermatology Published by Wolters Kluwer - Medknow
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Vijaya, et al.: A rare case report in a child with low mental IQ Figure 1: Multiple elevated violaceous papules and dusky lesions seen in
Figure 2: Subepidermal clefting beneath the basement membrane zone and
the pretibial region of the lower limb linear array of keratinous cysts in the superficial dermis with intervening lymphohistiocytic infiltrate (H and E, ×40) which was becoming chronic. Follow‑up biopsies done revealed features consistent with milia and prurigo dominant or recessive disorder, although an acquired nodularis. The third biopsy was sent to the present form has also been recognized. The incidence of the hereditary forms is 1:50,000 births; the more severe recessive forms have an incidence of 1:200,000– Histopathological examination showed epidermis 1:500,000 births. displaying focal thinning with effacement of rete ridges. A subepidermal cleft without significant inflammatory The rare pretibial variant of DEB was first described by infiltrate was noted just beneath the basement Kuske in 1946. Pretibial EB (PEB) is distinguished membrane zone. The roof of the cleft was formed by from other forms of DEB by a milder phenotype which very minimal dermal tissue just beneath the basement is characterized by nail dystrophy, scars, and milia membrane zone. The dermis showed a horizontal that are frequently associated with pruritic, lichenoid linear array of keratinous cysts with intervening papules. The skin lesions preferentially affect the diffuse lymphohistiocytic infiltrate [Figure 2]. pretibial skin. Intact blisters rarely are observed. Pigment incontinence was noted. Histological features Although nail dystrophy presents in childhood, the were suggestive of a noninflammatory subepidermal onset of skin lesions typically occurs after 10 years of bullous disorder favoring a diagnosis of DEB. age and has been reported to occur as late as the fifth Long‑standing lesions develop milia which were seen decade. The lesions in the present case started when as a horizontal linear array of keratinous cysts. Since the patient was 3‑year‑old and gradually progressed to the lesions were limited to the pretibial region and lichenified papules. The lesions were intensely pruritic were intensely pruritic, the final diagnosis offered was to disturb the child who was already slightly disabled pretibial DEB (dermolytic) pruriginosa (Pr).
with low IQ.
PEB shows appreciable clinical overlap with another rarely described DEB subset, DEB‑Pr. Several authors EB are best classified into three subgroups on the basis have suggested these conditions may represent the of the level at which the skin separates. The three same disease.[5,6] The case in the present study had subgroups are ‑ intraepidermal/epidermolytic (EB exclusive pretibial lesions with associated intense simplex), intra‑lamina lucida/junctional (junctional pruritis, and hence it was labeled as pretibial DEB‑Pr.
EB), and sub‑lamina densa/dermolytic (DEB). The incidence of PEB is unknown. It may be more DEB represents a group of inherited disorders that common than suspected as it can be misdiagnosed are characterized by defects in Type VII collagen and as other inflammatory diseases. This has happened sub‑lamina densa blisters. Type VII collagen is encoded in the present case also where earlier biopsies were by COL7A1 gene that is located on chromosome misdiagnosed as lichen plano‑pilaris, lichen planus, 3p21.[2,3] It is usually inherited as an autosomal and prurigo nodularis. Inheritance of both PEB and Indian Journal of Paediatric Dermatology Vol 17 Issue 1 Jan-Mar 2016
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Vijaya, et al.: A rare case report in a child with low mental IQ DEB‑Pr is autosomal dominant, although sporadic, and of alleviating the pruritis which may cause secondary compound heterozygous cases have been described.[5,8] changes and mask the true nature of the lesion.
On several studies, mutational analysis have shown glycine substitution mutations in COL7A1 in both We acknowledge Dr. Guruprasad Aggithaya, Institute of Applied Dermatology, Kasargod for providing the Histologically, many studies have shown that biopsies clinical inputs.
from the lesions studied show subepidermal blisters and superficial dermal fibrosis within which multiple Financial Support and Sponsorship
small cysts lined by keratinizing epithelium are Nil.
seen.[3,9] When the level of clefting was observed carefully in the present case, the roof of the cleft was Conflicts of Interest
seen just beneath the basement membrane zone with There are no conflicts of interest.
a minimal amount of dermal tissue. This substantiates the pathology in the Type VII collagen in the region of anchoring fibrils. The dermis may show moderately dense lymphocytic infiltrate. The keratinous cysts 1. Weedon D, editor. The vesiculobullous reaction pattern. have been linked to be of eccrine origin.
In: Weedon's Skin Pathology. 3rd ed. London: Churchill Livingstone; 2010. p. 93‑148.
2. Naeyaert JM, Nuytinck L, De Bie S, Beele H, Kint A, De Paepe A. The mainstay of treatment for this condition includes Genetic linkage between the collagen Type VII gene COL7A1 prevention of trauma and local wound care. Use of and pretibial epidermolysis bullosa with lichenoid features. cyclosporine, thalidomide, and topical tacrolimus J Invest Dermatol 1995;104:803‑5.
for the treatment of pruritus associated with the 3. Rizzo C, Anandasabapathy N, Walters RF, Rosenman K, DEB‑Pr has been recommended by many studies. Kamino H, Prystowsky S, et al. Pretibial epidermolysis bullosa. Dermatol Online J 2008;14:26.
Recent advances in the treatment of junctional EB 4. Kuske H. Epidermolysis traumatic, regionar uber beiden by transplantation of genetically modified epidermal tibiae zur athrophie fuhrend mit dominanter verenbung. stem cells and successful gene expression repair by spliceosome‑mediated RNA trans‑splicing in EB 5. Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J. A glycine‑to‑arginine simplex promise to revolutionize the treatment of EB. substitution in the triple‑helical domain of Type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 1997;108:947‑9.
6. Bridges AG, Mutasim DF. Pretibial dystrophic epidermolysis bullosa. Cutis 1999;63:329‑32.
Pretibial DEB with an element of intense pruritis may 7. Tang WY, Lee KC, Chow TC, Lo KK. Three Hong Kong Chinese be a distinct entity where in the lesions are exclusively cases of pretibial epidermolysis bullosa: A genodermatosis that can masquerade as an acquired inflammatory disease. Clin Exp pretibial and highly pruritic. The prevalence of papular itchy lichenoid lesions, signs of scratching, and 8. Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J. paucity of blisters at the time of clinical examination Pretibial epidermolysis bullosa: Genetic linkage to COL7A1 may result in incorrect diagnosis and treatment. An and identification of a glycine‑to‑cysteine substitution in the appropriate clinical history and increased awareness of triple‑helical domain of Type VII collagen. Hum Mol Genet histopathological features will enable earlier diagnosis 9. Joshi A, Sah SP. Pretibial epidermolysis bullosa. Indian J and suitable management. This rare case of pretibial DEB with intense pruritis occurring in a child with low 10. Berk DR, Bayliss SJ. Milia: A review and classification. J Am mental IQ all the more raises the question of means Acad Dermatol 2008;59:1050‑63.
Indian Journal of Paediatric Dermatology Vol 17 Issue 1 Jan-Mar 2016
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