Initial characterization of stiff skin-like syndrome in West Highland white terriers

BACKGROUND Stiff skin syndrome and systemic or localized scleroderma are cutaneous disorders characterized by dermal fibrosis and present clinically with induration of the skin, with or without joint, internal organ or vascular involvement. OBJECTIVES To provide clinical, histological and preliminary genetic analysis of two West Highland white terrier siblings presenting with indurated skin resembling stiff skin syndrome in humans. ANIMALS Two client owned full sibling West Highland white terriers from two different litters. METHODS Clinical examination, histopathological examination and whole genome sequencing analysis of affected and unaffected West Highland white terriers. RESULTS Affected dogs exhibited markedly indurated skin that was attached firmly to the underlying tissue and incomplete closure of the mouth and eyes. No abnormalities were found by neurological or orthopaedic examination, radiographs of the head or whole body computed tomography. Histologically, the dermis and pannicular septa were thickened by a marked increase in coarse collagen fibres and a mild to moderate increase in collagen fibre diameter. The syndrome most likely follows an autosomal recessive mode of inheritance. The sequence analysis did not reveal any obvious causative variant in the investigated candidate genes ADAMTSL2 and FBN1. CONCLUSION AND CLINICAL IMPORTANCE The clinical phenotype and histopathological features of two West Highland white terrier siblings resembled stiff skin syndrome in humans. Unlike in humans, or previously described beagles with stiff skin, there was no restriction of joint mobility. Genetic analysis did not detect a candidate causative variant and warrants further research.

The Urologic and cutaneous review.

Mode of access: Internet.

Syllabus of dermal pathology. Course no. 3, Nevi and neoplasms.

Mode of access: Internet.

International medical and surgical survey.

Abstracts of medical literature.

Transactions of the American Dermatological Association at the ... meeting held at ...

Description based on surrogate of: 2nd (Aug. 27, 28, and 29, 1878).

The Urologic and cutaneous review.

Mode of access: Internet.

The Journal of cutaneous diseases including syphilis ...

Mode of access: Internet.

University of Michigan Hospital

Includes Medicine, Neurology, Dermatology, Obstetrics, Pediatrics, Opthalmology, Otology, surgery, Gynecology, General Office, Psychopathic Ward. On verso: U. Hospital. Catherine St. [Street] Hospitals

Rear elevation of new dry kiln & store shed

The hospital heating plant (1897-1925) stood just north and downhill from the Dermatology Ward. The university railroad (1914) ran north of the heating plan and just east of Glen.

Syllabus of dermal pathology.

Course 3; Rewritten and rev. by Robert Forbis, Elson B. Helwig and Hamilton Montgomery.

Monatshefte für praktische Dermatologie.

Mode of access: Internet.

Archiv für Dermatologie und Syphilis.

Suspended between v. 185, no. 3 (1944) and v. 186 (1946)

Bibliography of Herman Goodman, M. D. Books, articles,

Mode of access: Internet.

Telemedicine - the way ahead for medicine in the developing world

An e-mail link with the facility to send high-resolution digital images is a cheap and uncomplicated telemedicine method. The Swinfen Charitable Trust helped establish such a link in Patan Hospital Kathmandu, Nepal in March 2000. Over 12 months using this link 42 telemedicine referrals were sent to specialists throughout the world. Referrals were: 36% respiratory medicine; 21% neurology, 21% dermatology; 14% cardiology; 5% nephrology; and 3% radiology - 28 had digital pictures attached, of which 96% were of high enough quality on which specialists were able to comment. Thirty-nine replies were received. The average time for a specialist reply was 2 days, and 45% were answered within 24 hours. All replies were judged by independent assessors to be helpful or very helpful for diagnosis, management and education. The assessors decided that in 50% of cases the advice if acted upon would have shortened hospital stay. This pilot study has shown that a low-cost telemedicine link is technically feasible and can be of significant benefit for diagnosis, management and education in a developing world setting.