A hereditary disorder of cornification and multiple congenital defects in five Rottweiler dogs

Abstract

The clinical, biochemical, histological, or ultrastructural abnormalities of ®ve related female Rottweiler dogs with a hereditary disorder of corni®cation are reported. Three of the ®ve dogs also had multiple noncutaneous congenital defects. Cutaneous abnormalities included generalized, hyperkeratotic, variably pigmented plaques, which in one dog were distributed along Blaschko's lines. Moderate to severe parakeratosis involving the follicular infundibula and ostia and focal orthokeratosis with variable vacuolation of spinous cells was observed on histopathologic examination of all skin specimens. Supplementation with oral zinc in two dogs and vitamin A alcohol and calcitriol in one dog did not result in clinical or histological improvement of the hyperkeratotic lesions. This disorder of corni®cation in dogs is similar to human disorders of corni®cation that follow the lines of Blaschko. Blaschko's lines follow a V-shape over the spine, an S-shape on the abdomen, and an axial distribution on the limbs. No related male dogs were aected, suggesting an Xlinked dominant mode of inheritance. Many features of this hereditary DOC correspond to the human condition CHILD syndrome.

Intracorneal vacuoles in skin diseases with parakeratotic hyperkeratosis in the dog: a retrospective light‐microscopy study of 111 cases (1973–2000)

“…Another striking feature of CFP is the presence of vacuoles within the parakeratotic keratin 2,3 . In a recent case report by Lewis et al.…”

“…Findings consistent with primary idiopathic seborrhoea are a mixed surface orthokeratotic and parakeratotic hyperkeratosis with focal areas of parakeratosis (parakeratotic ‘caps’) overlying oedematous dermal papillae 13 . Prominent parakeratosis targeting the entire follicular epithelium is a unique feature of CFP 2,3 …”

“…Recently, a hereditary disorder of cornification called congenital follicular parakeratosis (CFP) was described in Rottweiler and Siberian Husky dogs, in which the parakeratosis was often confined to the hair follicle 2,3 . An interesting histopathological finding in this disorder was the presence of numerous vacuoles within the parakeratotic layer 2,3 . The purpose of this retrospective light‐microscopy study was to determine whether the vacuoles are found exclusively in CFP or if they are also a feature of other parakeratotic skin diseases.…”

Proliferative, lymphocytic, infundibular mural folliculitis and dermatitis with prominent follicular apoptosis and parakeratotic casts in four Labrador retrievers: preliminary description and response to therapy

“…This feature is described in congenital follicular parakeratosis and inflammatory epidermal naevi, which are disorders that are also associated with parakeratotic hyperkeratosis and bacterial infection. 12,14 Secondary bacterial and yeast otitis has also been described in feline proliferative otitis and dermatitis, a clinically and histologically similar condition, which features excessive epidermal and follicular parakeratosis. 1…”

“…The major clinical features consist of multifocal verrucous papules and plaques, follicular cast formation, and varying degrees of hair loss and comedone formation. The clinical lesions resemble a variety of other scaling and crusting disorders (see Supporting Information), [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] and are thus not considered specifically diagnostic.…”