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Veterinary Dermatology 2000, 11, 211215

Congenital diseases
Abstract In this brief section only three congenital cutaneous diseases are outlined. They include
epitheliogenesis imperfecta, epidermolysis bullosa and hyperelastosis cutis. The rst is an absence of
epidermal structures, the second is a defect at the epidermaldermal junction and the third is a disease of a
component of the dermis. The clinical and histopathologic ndings for each are described herein.
Keywords: congenital, epidermolysis bullosa, epitheliogenesis imperfecta, hyperelastosis cutis.

EPITHELIOGENESIS IMPERFECTA
General considerations
1 This is a very rare, congenital, cutaneous defect
of foals.
Aetiology and pathogenesis
1 It is apparently inherited as a single autosomal
recessive trait.1
Clinical features
1 The lesions are present at birth.
2 The lesions consist of sharply demarcated areas in
which there is an absence of the epidermis and skin
appendages2 (Fig. 1).
3 The lesions usually involve the distal extremities
below the carpus and tarsus.
4 The lesions bleed easily and secondary bacterial
infection is almost inevitable.
5 Septicaemia is the usual cause of death.
Histological ndings
1 There is a complete lack of epidermis and
cutaneous appendages.

Diagnosis
1 This disease should be dierentiated from epidermolysis bullosa.
2 Histological examination of biopsies taken at the
margin of the erosions should be diagnostic.
Clinical management
1 None.
2 The sire and dam of aected foals should be
removed from breeding programmes.

EPIDERMOLYSIS BULLOSA
General considerations
1 Epidermolysis bullosa refers to a group of hereditary mechanobullous diseases in which lesions are
caused by a separation at the dermalepidermal
junction beneath the basal epithelium.
2 The disease in horses has been well documented in
the Belgian breed.3,4
3 A similar disease may occur in American saddlebreds.
4 The disease appears to be an autosomal recessive.

Figure 1. Epitheliogenesis imperfecta in a

foal (Reprinted with permission from
W.B. Saunders Company).

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Aetiology and pathogenesis

See Editor's comments at the end of this disease.
Clinical signs
1 The condition has been known to occur in both
males and females of aected breeds.
2 The lesions are present at birth or appear shortly
thereafter.
3 The disease involves the skin, mucocutaneous
junctions and oral mucosa (Figs 2 and 3).
4 It is characterized by erosions that expand peripherally from the area of initial involvement.
5 Collapsed bullae can frequently be seen in the
oral cavity.
6 Separation of the hooves at the coronary bands can
be noted.
7 Dystrophic teeth are a feature.

Diagnosis
1 Characteristic lesions occurring in a neonate of the
Belgium breed are sucient for a clinical diagnosis.
2 A positive Nikolsky sign can frequently be elicited
(the epidermis can be `slipped' o the underlying
dermis with transverse pressure).
3 Demonstrating cleavage at the epidermaldermal
junction histologically is conrmatory.
4 The major dierential diagnosis is epitheliogenesis
imperfecta.
Clinical management
1 There is no treatment.
2 Both sire and dam of aected foals should not be
used for further breeding purposes as both are
heterozygous carriers of the trait.

Histological ndings
1 The diagnostic lesion is subepidermal clefting,
vesiculation and bulla formation (Fig. 4) leading to
complete and extensive separation of the epidermis
from the dermis (Fig. 5).
2 There is minimal inammation in peracute lesions;
brin and neutrophils are found on the ulcerated
surface in older lesions.

Editors' comments
Regarding the underlying genetic defect in junctional epidermolysis bullosa in Belgian foals epidermolysis bullosa in humans and animals is
divided into three categories based on the level of
separation. The disease in Belgian foals falls into
the second category, namely junctional epidermolysis bullosa, in which the split occurs within the
lamina lucida. A variety of mutations in structural
proteins that connect the epithelial cells to the

Figure 2. Epidermolysis bullosa. Oral ulcerations in a young foal

(Case material: Stannard).

Figure 3. Epidermolysis bullosa. Cutaneous lesions of same foal as

Fig. 2 (Case material: Stannard).

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Figure 4. Epidermolysis bullosa. The margin of an ulcer in the oral

mucosa shows the that the separation is occurring at the
dermoepidermal junction. (H & E. Magnication611.)

Figure 5. Epidermolysis bullosa. There is minimal inammation in

a totally denuded area of skin. (H & E. Magnication623.)

dermis have been identied in human and canine

epidermolysis syndromes. Preliminary examination
of tissue from aected Belgian foals, suggests that a
defective expression of the gamma 2 chain of
laminin 5 underlies this subset of junctional
epidermolysis bullosa in this breed (personal communication, T. Olivry, University of North Carolina,
USA and G. Meneguzzi, INSERM U385, Nice, France,
2000). Laminin-5 is important in keratinocyte adhesion
and hemidesmosomal assembly.

Clinical signs
1 While the defect is present at birth, it may be several
months before the disease is clinically apparent.
2 The lesions may be solitary or multiple. The most
common location is the dorsal body surface.
3 The lesions consist of reasonably sharply demarcated areas of `loose skin' several inches in diameter
(Figs 6 and 7).
4 The skin is hyperfragile, tears easily and exhibits
impaired healing.
5 Many of the defects have a depressed surface best
appreciated with proper lighting. Pain may be elicited
when traction is applied to the edge of the defect.
6 Necropsy of aected animals reveals the areas of
hyperfragile skin are much more extensive than
observed clinically.
7 Aected horses appear to exhibit very little, if any,
hypermobility of the joints.
8 On occasion, the presenting complaint is the
development of haematomas.

HYPERELASTOSIS CUTIS
General considerations
1 This group of inherited connective tissue disorders
has also been referred to as cutaneous asthenia,
EhlersDanlos syndrome and dermatosparaxis.
2 This disease has only been seen in Quarter horses.
In the United States it is primarily seen in cutting
horse lines. A similar condition has been described in
an Arabian cross-bred.
3 The condition is apparent at birth or shortly
thereafter. Males and females are equally aected.5
Aetiology and pathogenesis
1 These conditions have been extensively investigated
in humans where multiple subtypes occur. These have
been classied based on clinical, genetic and biochemical dierences. In addition to cutaneous forms, there
are subtypes that primarily aect arteries, ocular
structures, joints and periodontal structures. We do
not have such detailed information in horses.
2 In general, these syndromes have biochemical
defects aecting the synthesis of collagen. The
biochemical defect may or may not be associated
with morphological changes at the light and electron
microscope level. At least some of the syndromes
appear to lack any structural changes.
3 The disease in Quarter horses is inherited as an
autosomal recessive trait. To date, the disease has not
been well characterized histologically, ultrastructurally and biochemically.

Histological ndings
1 The histological changes have not been well
documented in the horse. Examination of a few of the
depressed defects may reveal an absence or greatly
diminished deep dermal collagen layer (Fig. 8).
2 Other changes expected include thinning of the
dermis and thinning, fragmentation and disorientation of collagen bres (Fig. 9). Interpretation of
such changes must be done with caution. Ideally,
an age and site matched control should be
available.
Diagnosis
1 The characteristic clinical ndings in a young
Quarter horse are sucient for a diagnosis in most
cases.
2 A history of similar lesions in the sire, dam, siblings
or closely related horses, is helpful diagnostically.
3 Microscopic and ultrastructural examination of
aected skin may be of more value diagnostically in
the future.
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A. A. Stannard

Figure 6. Hyperelastosis cutis. Areas of loose skin (Case material:

Stannard).

Figure 8. Hyperelastosis cutis. In some cases, the mid dermal

collagen layer appears reduced. (H & E. Magnication615.)

Figure 7. Hyperelastosis cutis. Areas of aected skin after released

from tension (Case material: Stannard).

Figure 9. Hyperelastosis cutis. Higher magnication of the aected

areas reveals that the collagen bundles are thinner than normal and
more widely separated. It is important to note that histological
lesions may not be evident in aected horses. (H & E.
Magnication690.)

Clinical management
1 Aside from minimizing trauma, there is no treatment.
2 Aected horses as well as sires and dams of
aected horses should be removed from breeding
programmes.
REFERENCES
1. Yager, J.A., Scott, D.W. The skin and appendages. In:
Jubb, K.V.F. & Kennedy, P.C. eds. The Pathology of
Domestic Animals 4th Edition. San Diego, CA:
Academic Press, 531738, 1993.
2. Barbet, J.L., Baxter, G.M., McMullan, W.C. Diseases
of the skin. In: Colahan, P.T., Mayhew, I.G., Merritt,
A.M. & Moore, J.N. eds. Equine Medicine and Surgery

4th edn. Goleta, CA: American Veterinary

Publications, Inc., 15691735, 1991.
3. Kohn, C.W., Johnson, G.C., Garry, F., Johnson,
C.W., Martin, S., Scott. D.W. Mechanobullous
disease in two Belgian foals. Equine Veterinary
Journal 1989; 21: 297301.
4. Johnson, G.C., Kohn, C.W., Johnson, C.W., Garry, F.,
Scott, D., Martin, S. Ultrastructure of junctional
epidermolysis bullosa in Belgian foals. Journal of
Comparative Pathology 1988; 99: 32936.
5. Lerner, D.J., McCracken, M.D. Hyperelastosis cutis in
two horses. Journal of Equine Medicine and Surgery
1978; 2: 3502.

Zusammenfassung In diesem kurzen Kapitel werden nur drei kongenitale Hautkrankheiten, Epitheliogenesis
imperfecta, Epidermolysis bullosa und Ehlers-Danlos Syndrom, umrissen. Die erste Erkrankung ist ein Fehlen
epidermaler Strukturen, die zweite ein Defekt an der Grenze zwischen Epidermis und Dermis und die dritte
eine Erkrankung eines Bestandteils der Lederhaut. Die klinischen und histopathologischen Entdeckungen fur
jede dieser Erkrankungen werden hier beschrieben. [Stannard A. A. Congenital diseases. (Genodermatosen.)
Veterinary Dermatology 2000; 11: 211215.]
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Resume Dans ce chapitre concis, trois dermatoses congenitales sont decrites. Il s'agit de l'epitheliogenesis
imperfecta, de l'epidermolyse bulleuse, et de l'hyperelastose cutanee. La premiere est due a une absence de
structures epidermiques, la deuxieme a un defaut de la jonction dermo-epidermique et la troisieme est une
maladie dermique. Les aspects cliniques et histopathologiques de ces maladies sont rapportes ici. [Stannard A.
A. Congenital diseases. (Maladies congenitales.) Veterinary Dermatology 2000; 11: 211215.]
Resumen En esta breve seccion se destacan solo tres enfermedades cutaneas congenitas. Estas incluyen la
epiteliogenesis imperfecta, la epidermolisis bullosa, y la hiperelastosis cutis. La primera es una ausencia de
estructuras epidermicas, la segunda es un defecto de la union dermo-epidermica y la tercera es una enfermedad
del componente dermico. Se describen aqu los hallazgos cl nicos e histopatologicos para cada uno. [Stannard
A. A. Congenital diseases. (Enfermedades congenitas.) Veterinary Dermatology 2000; 11: 211215.]

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