Multiple follicular abnormalities in a 1-year old cat consistent with basaloid follicular hamartomas.

BACKGROUND: In humans, basaloid follicular hamartomas are benign follicular tumours, that can be solitary or multiple, in which case they show autosomal dominant inheritance. HYPOTHESIS/OBJECTIVES: This study describes clinical and histopathological findings observed in a young cat, which could be consistent with basaloid follicular hamartomas. CASE DESCRIPTION: Multiple follicular abnormalities, consistent with cutaneous diffuse basaloid follicular hamartomas, were observed in skin samples from a one-year old neutered domestic short hair cat. Clinical signs were diffuse symmetrical alopecia with exaggerated skin markings (ventral abdomen, thorax and medial aspects of the limbs) and intense follicular-centred thickening (face and feet). Microscopic lesions were characterised by multiple proliferative follicular abnormalities in all samples. The epidermis showed a very irregular surface with the follicles filled with variably pigmented keratin. The epithelial walls of the follicles had multiple small hyperplastic basaloid cells foci. In the superficial dermis under the epidermis and around the follicles, fibroblastic spindle-shaped mesenchymal cells with a homogeneous moderate density were present in the collagenous connective tissue. The interfollicular epidermis was also abnormal with multiple small proliferating trichoblastic foci originating from the basal layer. RNAscope testing for feline papillomavirus was negative. CONCLUSIONS AND CLINICAL RELEVANCE: This case report provides the first evidence of clinical and histopathological findings of multiple follicular abnormalities, consistent with cutaneous diffuse basaloid follicular hamartomas in a cat.

De multiples anomalies folliculaires, compatibles avec des hamartomes folliculaires basaloïdes diffus cutanés, ont été observées dans des échantillons de peau d'un chat domestique à poils courts castré âgé d'un an. Les signes cliniques étaient une alopécie diffuse symétrique avec des marques cutanées exagérées (abdomen ventral, thorax et face médiale des membres) et un épaississement folliculaire intense (face et pieds).

Múltiplas anormalidades foliculares, consistentes com hamartomas cutâneos foliculares basaloides difusos, foram observadas em amostras de pele de um gato doméstico de pelo curto castrado de um ano de idade. Os sinais clínicos foram alopecia simétrica difusa com marcações cutâneas exuberantes (abdômen, tórax e aspecto medial dos membros) e espessamento folicular central intenso (face e patas).

Se observaron múltiples anomalías foliculares, consistentes con hamartomas foliculares basaloides difusos cutáneos, en muestras de piel de un gato doméstico de pelo corto castrado de 1 año. Los signos clínicos fueron alopecia simétrica difusa con marcas cutáneas exageradas (abdomen ventral, tórax y cara medial de las extremidades) e intenso engrosamiento de la piel centrado en los folículos (cara y pies).

Independent DSG4 frameshift variants in cats with hair shaft dystrophy.

Investigations of hereditary phenotypes in spontaneous mutants may help to better understand the physiological functions of the altered genes. We investigated two unrelated domestic shorthair cats with bulbous swellings of the hair shafts. The clinical, histopathological, and ultrastructural features were similar to those in mice with lanceolate hair phenotype caused by loss-of-function variants in Dsg4 encoding desmoglein 4. We sequenced the genomes from both affected cats and compared the data of each affected cat to 61 control genomes. A search for private homozygous variants in the DSG4 candidate gene revealed independent frameshift variants in each case, c.76del or p.Ile26fsLeu*4 in case no. 1 and c.1777del or p.His593Thrfs*23 in case no. 2. DSG4 is a transmembrane glycoprotein located primarily in the extracellular part of desmosomes, a complex of adhesion molecules responsible for connecting the keratin intermediate filaments of neighbouring epithelial cells. Desmosomes are essential for normal hair shaft formation. Both identified DSG4 variants in the affected cats lead to premature stop codons and truncate major parts of the open-reading frame. We assume that this leads to a complete loss of DSG4 function, resulting in an incorrect formation of the desmosomes and causing the development of defective hair shafts. Together with the knowledge on the effects of DSG4 variants in other species, our data suggest that the identified DSG4 variants cause the hair shaft dystrophy. To the best of our knowledge, this study represents the first report of pathogenic DSG4 variants in domestic animals.

Histologic features of hair follicle neoplasms and cysts in dogs and cats: a diagnostic guide.

Hair follicle neoplasms occur in many different species, including humans. In domestic animals, they are most common in dogs. Most hair follicle tumors are benign, but malignant neoplasms can also occur. To diagnose hair follicle neoplasms, a thorough knowledge of follicular anatomy is important, given that follicular tumors are classified according to the differentiation pattern seen in the corresponding part of the normal hair follicle. This review focuses on the key diagnostic features of hair follicle tumors and follicular cysts in dogs and cats.

Description and characterization of a hair coat disorder in schipperkes.

BACKGROUND: Schipperkes develop bilaterally symmetrical alopecia preceded by lightening of the hair coat not associated with systemic clinical signs. The alopecia is presumptively diagnosed as Alopecia X but has never been investigated. HYPOTHESIS/OBJECTIVES: The purpose of this study was to describe clinical features, histopathological and laboratory abnormalities associated with symmetrical, noninflammatory alopecia in schipperkes. ANIMALS: Three healthy and eight affected schipperkes. METHODS AND MATERIALS: Complete blood count (CBC), serum chemistry panel, urinalysis (UA), urine cortisol: creatinine ratio (UCCR), total thyroxine (T4 ), free thyroxine by equilibrium dialysis (fT4 ed), thyroid stimulating hormone (TSH) and pre- and post-stimulation cortisol with sex hormone analyses were performed for all dogs. A minimum of two skin biopsy sites were sampled for histopathological evaluation. RESULTS: The CBC, serum chemistry panel, UA, T4 , fT4 ed, TSH and post-ACTH cortisol concentrations were normal for all dogs. Androstenedione concentrations were increased for all dogs; two of three healthy and five of eight affected dogs had increased post-ACTH androstenedione concentrations. Estradiol concentrations were increased for all healthy and four of eight affected dogs, with post-ACTH estradiol concentrations increased for all healthy and five of eight affected dogs. Progesterone concentrations were increased for two of three healthy and four of eight affected dogs. Post-ACTH progesterone concentrations were increased for one of three healthy and four of eight affected dogs. For one of three healthy and two of eight affected dogs, 17-hydroxyprogesterone concentrations were increased; post-ACTH 17-hydroxyprogesterone concentrations were increased in three of eight affected dogs only. Histopathology results from affected dogs were consistent with hair cycle arrest. CONCLUSIONS AND CLINICAL IMPORTANCE: This disorder resembles Alopecia X clinically and histologically.

A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

OBJECTIVE: A novel congenital disorder affecting a calf was observed, and its phenotype and genetic mutation identified. ANIMAL: A six-month-old female Brown Swiss calf. METHODS: Diagnostic investigation and whole genome sequencing of a case parent trio was performed. RESULTS: The calf had a dull kinky coat with mild hypotrichosis, and teeth with brown staining and enamel defects. Histological examination of skin biopsies was compatible with a follicular dysplasia. Radiography and computed tomography revealed thickening of the skull bones and large pulp cavities with a marked thinning of enamel affecting all teeth. A de novo germline mutation affecting the distal-less homeobox gene (DLX3) was identified. The 10 bp frameshift mutation in exon 3 of the bovine DLX3 gene is predicted to replace the second C-terminal transactivation domain of the wild-type protein by a recoded peptide of 99 amino acids without any sequence similarity. CONCLUSION AND CLINICAL IMPORTANCE: A causative mutation for a sporadic phenotype resembling human tricho-dento-osseous syndrome was identified after detection of a de novo germline mutation in the DLX3 gene.

Desmoplastic tricholemmoma in a dog.

A 10-year-old mixed breed dog was presented with a 0.8 cm diameter mass below the left eye region. The mass was surgically removed and processed for histopathological examination. Microscopically, tumor cells proliferated in small lobules, nests and cords, and the tumor parenchyma was separated by desmoplastic stroma. Majority of the tumor cells were periodic acid-Schiff (PAS)-positive, and the desmoplastic stroma was densely collagenous and mucinous. Immunohistochemical results showed that the tumor cells were diffusely positive for cytokeratin 15, cytokeratin 19 and CD 34, while cytokeratin 8 reactivity was limited to the tumor cells proliferating in cords. Few tumor cells were positive for nestin. Based on the histopathological findings, the tumor was diagnosed as desmoplastic tricholemmoma.

Clinical and pathological features of hair coat abnormalities in curly coated retrievers from UK and Sweden.

OBJECTIVES: To gain information on hair loss amongst curly coated retrievers by questionnaire and to define the clinical and pathological features of hair coat abnormalities in affected dogs in the United Kingdom and Sweden. MATERIALS AND METHODS: Questionnaires were completed by members of the Curly Coated Retriever Clubs. Fourteen dogs (six in the United Kingdom, eight in Sweden) were clinically examined and skin/hair samples collected for microscopy and histopathology. Blood was collected for haematological, biochemical and endocrine assays. RESULTS: Of 90 dogs surveyed, 39 had current or previous episodes of symmetrical, non-pruritic alopecia and or frizzy coat changes, usually affecting caudal thighs, axillae, dorsum and neck before 18 months of age; 23 dogs had a waxing/waning course. Examined dogs generally matched the pattern described in questionnaires. Hair shaft anomalies comprised occasional distorted anagen bulbs (10 dogs) and transverse fractures (8 dogs). Vertical histopathological sections showed infundibular hyperkeratosis (28 of 30 sections) and low-grade pigment clumping (17 of 30). Subtle telogenisation of hair follicles was unequivocally confirmed by transverse histomorphometric analyses. CLINICAL SIGNIFICANCE: The follicular dysplasia of curly coated retriever reported here is similar to that of Irish water spaniels and Chesapeake Bay retrievers but distinct from that of Portuguese water dogs. The genetic basis requires further assessment.

IMAGING DIAGNOSIS-NUCLEAR SCINTIGRAPHIC, RADIOLOGICAL, AND PATHOLOGIC CHARACTERISTICS OF METASTATIC PILOMATRICOMA IN A DOG.

A 6-year-old castrated Goldendoodle dog was presented for left-sided lameness of 3 weeks' duration. Focal, moderate to marked increased 99m Tc-methylene diphosphonate (99m Tc-MDP) uptake was detected in the right caudal lung lobe, caudal angle of the left scapula, and the distal aspect of the left femur with whole body bone phase scintigraphy. Radiographs identified a well-circumscribed, oval-shaped soft tissue opaque mass in the right caudal lung lobe; a suspect oval-shaped osteolytic lesion in the proximal third of the left scapula; and an osteolytic lesion in the distal aspect of the left femur. Metastatic pilomatricoma was confirmed histologically at all three sites.

Advances in Microbiology, Infectious Diseases and Public Health: Fungal Occurrence in the Hair and Skin of Symptomatic Pets in Turin, Italy.

Companion animals, often asymptomatic reservoir of fungi, can be important sources of infection in humans, due to the close contact with their owners. The present study was aimed to assess the occurrence of dermatophytes and other fungi isolated from pet dermatological lesions in Turin, Italy. Dermatological specimens were examined for fungal elements by direct microscopy and cultured to detect dermatophytes, other filamentous fungi and yeasts: 247 pets (118 cats, 111 dogs and 18 dwarf rabbits) were positive for fungal detection in culture. Microsporum canis was the most frequent dermatophyte in cats and dogs, whereas Trichophyton mentagrophytes was the most common in rabbits. Among the other fungi, for all examined pets, dematiaceous fungi were the most isolated, followed by Mucorales, penicilli, yeasts and yeast-like fungi, and aspergilli. No gender predisposition was detected for dermatophyte growth; on the contrary, for the other fungi male cats were more susceptible than female. The highest fungal occurrence was recorded in <1-year-old cats for dermatophytes, and in <5-year-old cats and dogs for the other fungi. Autumn was the period associated with a relevant incidence of fungal infection. Finally, fungi were more frequent in non pure-breed cats and in pure-breed dogs. These data underline the importance to timely inform pet owners about the potential health risk of infection caused not only by dermatophytes but also by non-dermatophyte fungi, routinely considered to be contaminants or harmless colonizers, since their role as source of zoonotic infections is not to be excluded.

Area of hock hair loss in dairy cows: risk factors and correlation with a categorical scale.

Data from 3691 dairy cows from 76 farms were used to investigate the risk factors associated with the area of hair loss over the lateral aspect of the hock and the correlation between the area of hair loss (as calculated using a hock map) and hock lesion scores determined using a pre-existing categorical scale. Six factors were associated with a greater area of hair loss, including cows with locomotion score 3, a cleanliness score (10/28 to 18/28), high daily milk yield (25.1-58.1 kg), poor body condition score (1-1.5), duration of winter housing (≥41 days) and some combinations of cubicle base and bedding materials. Compared with cows housed in cubicles with a concrete base and whole straw or rape straw bedding, cows housed in cubicles with concrete bases with sand or chopped straw bedding had smaller areas of hair loss and cows housed on a mattress base with whole straw or rape straw bedding had larger areas of hair loss. Area of hair loss, as measured on hock maps, was not significantly different between cows with score 1 (median 23.6 cm(2)) and score 2 (median 20.3 cm(2)) on the categorical scale for hock lesions. This suggests that the categorical scale was not reflecting the extent of hair loss and that hock maps are a good alternative for studying the dynamics of hock lesions over time.

A collision tumour consisting of malignant trichoblastoma and melanosarcoma in a rabbit.

A 7-year-old mixed breed neutered female rabbit (Orytolagus cuniculus) developed a solitary black nodular mass (1 cm in diameter) in the skin of the right flank. Microscopically, the mass consisted of an admixture of neoplastic trichoblasts and melanocytes. The former were arranged as solid, trabecular, island-like and gland-like structures and the cells had oval nuclei with prominent nucleoli and lightly eosinophilic scant cytoplasm. The latter population exhibited prominent nuclear atypia and high mitotic index in the clusters of a few cells or single cells. Immunohistochemically, the neoplastic trichoblasts expressed cytokeratins and E-cadherin, while the neoplastic melanocytes expressed vimentin, S100 protein, melan-A and melanoma antigen. A diagnosis of collision tumour involving malignant trichoblastoma and melanosarcoma was made.

Incidence of delayed hair re-growth, pruritus, and urinary retention after epidural anaesthesia in dogs.

OBJECTIVE: Delayed hair re-growth, pruritus and urinary retention are known complications after epidural anaesthesia in dogs. The aim of this study was to prospectively evaluate the effect of epidurally administered drugs on the occurrence of these complications in dogs. MATERIAL AND METHODS: Ninety dogs were included in this study. Eighty client-owned dogs undergoing surgery were randomly assigned to one of three epidural treatment groups: either morphine and bupivacaine (MB), bupivacaine (B), or saline solution 0.9% (S) was administered epidurally to these patients. Ten dogs were only clipped in the lumbosacral area (C). Follow-up started 4 weeks after clipping and was performed every 4-5 weeks in cases of delayed hair re-growth or pruritus. Hair re-growth in the lumbosacral area was observed and compared to hair re-growth in the surgical field and the fentanyl patch area. Cytological analysis and a trichogram were performed if hair re-growth was delayed after 6 months. Time interval to first urination postoperatively was recorded (n = 80). RESULTS: Hair re-growth was delayed in 11 dogs (12.2%; B: n = 7, S: n = 2, MB: n = 1, C: n = 1) with no differences between groups. Pruritus was evident in two dogs (2.2%; MB: n = 1, S: n = 1). After 6 months, hair had started to re-grow in all but one dog (B). After 10 months the coat of this dog had re-grown. Time to first urination did not differ between groups. CONCLUSION AND CLINICAL RELEVANCE: No direct correlation between the particular drugs injected epidurally and delayed hair re-growth, pruritus and urinary retention could be shown. Dog owners should be informed that hair re-growth after epidural anaesthesia could be markedly delayed.

A case of pili torti in a young adult domestic short-haired cat.

BACKGROUND: Pili torti is a congenital or acquired human disease characterized by flattening and twisting of the hair shaft by 180 degrees. A similar condition has been previously reported in a litter of kittens with generalized hair loss, associated with systemic signs and followed by death at a young age. ANIMAL: A 1-year-old castrated male domestic short-haired cat was presented for noninflammatory and nonpruritic symmetrical multifocal alopecia involving the head, pinnae, forelimbs, tail and chest. The cat was otherwise healthy. METHODS AND RESULTS: Microscopic examination of hair shafts revealed pili torti and a typical combination of anagen and telogen roots, occasionally spiral in shape, without evidence of mites or dermatophytes. Histopathological examination showed the same hair shaft abnormality, with normal epidermis, dermis, hair follicles and other adnexa. Scanning electron microscopy confirmed a hair shaft dysplasia characterized by pili torti, similar to that described in humans. CONCLUSIONS AND CLINICAL IMPORTANCE: To the best of the authors' knowledge, this is the first case report of pili torti in a healthy young adult cat.

Malignant pilomatricoma in a dog.

An 11-year-old female German shepherd dog was presented with a history of lameness and pain in the left forelimb. Clinical examination revealed ataxia of the hindlimbs and a subcutaneous mass in the left prescapular region. Radiography revealed metastatic foci in the left humerus, lung and abdomen. Gross necropsy examination revealed a firm, white mass in the left prescapular region. Multiple nodules with similar characteristics were observed in the lung, liver and spleen. Bone lysis was noted in the humerus and the fifth to seventh lumbar vertebrae. Microscopical examination revealed a proliferation of basal cells forming irregular islands of various sizes and surrounding extensive zones of keratinized 'ghost' cells. A definitive diagnosis of malignant pilomatricoma was made. This is a rare tumour in dogs with no previous report of metastasis to the spleen and liver.

Fractal pattern of canine trichoblastoma.

OBJECTIVE: To assess by fractal analysis the specific architecture, growth pattern, and tissue distribution that characterize subtypes of canine trichoblastoma, a benign tumor derived from or reduplicating the primitive hair germ of embryonic follicular development. STUDY DESIGN: Tumor masks and outlines obtained from immunohistologic images by gray threshold segmentation of epithelial components were analyzed by fractal and conventional morphometry. The fractal dimension [FD] of each investigated case was determined from the slope of the regression line describing the fractal region within a bi-asymptotic curve experimentally established. RESULTS: All tumor masks and outlines obtained by gray threshold segmentation of epithelial components showed fractal self-similar properties that were evaluated by peculiar FDs. However, only masks revealed significantly different FD values, ranging from 1.75 to 1.85, enabling the discrimination of canine trichoblastoma subtypes. CONCLUSION: The FD data suggest that an iterative morphogenetic process, involving both the air germ and associated dermal papilla, may be responsible of the peculiar tissue architecture of trichoblastoma. The present study emphasized the reliability of fractal analysis in achieving the objective characterization of canine trichoblastoma.

Epitheliotropic T-cell lymphoma in a guinea pig.

A 4-year-old female guinea pig was presented with pruritic, erythematous, hypotrichotic and scaling skin lesions, mainly involving the abdomen and the hindlegs. Clinical abnormalities were limited to the skin, and the guinea pig was otherwise healthy. The dermatological diagnostic work-up excluded ectoparasites, dermatophytosis and an endocrinopathy as differential diagnoses for the pruritus and hair loss. An allergic dermatitis was under investigation when the general and skin condition deteriorated. A neoplastic skin disorder was suspected, and skin biopsies revealed changes consistent with a cutaneous epitheliotropic T-cell lymphoma. Pautrier's microabscesses and immunophenotyped CD3(+) CD79(-) lymphocytes were identified. Owing to the deteriorating condition of the animal and the unknown but most likely poor prognosis of this disease, the guinea pig was euthanized. To the authors' knowledge, this is the first case report of cutaneous epitheliotropic T-cell lymphoma in the guinea pig with characteristic histopathological and immunohistochemical features.

Malignant pilomatricoma in a soft-coated Wheaten Terrier.

A 3-year-old, castrated male, soft-coated Wheaten Terrier was presented for evaluation of mild lameness, fecal incontinence, lumbosacral pain, and lack of anal tone. Magnetic resonance imaging scan showed a large (8 x 6 x 5 cm) mass invading and expanding the pelvic bones, sacrum, and associated structures. A fine-needle aspirate of the mass contained many neoplastic cells with high nuclear to cytoplasmic ratios and rare spindle and inflammatory cells. The neoplastic cells were 12-16 mum in diameter, round to cuboidal, basaloid in appearance, and arranged both individually and in loosely cohesive clusters with variably distinct cell borders. Given the location, signalment, and cytologic findings, differential interpretations included a primitive embryonal tumor (eg, neuroblastoma or nephroblastoma in an atypical location) or poorly differentiated carcinoma. The owner elected euthanasia due to the poor prognosis. Abnormal gross findings on necropsy included the pelvic mass and multiple firm, pale, pink-tan nodules in the lung, which proved to be metastases. On histologic examination, the mass and nodules were composed of irregular islands, lobules, and nests of basaloid cells, which transitioned abruptly into large lakes of "ghost" cells with areas of ossification and calcification, consistent with a diagnosis of malignant pilomatricoma. This unusual presentation of a pilomatricoma adds to our knowledge of expected cytologic findings for this tumor.

Black-hair follicular dysplasia in a New Zealand Huntaway Dog.

CASE HISTORY: A 6-year-old intact male New Zealand Huntaway dog had slowly progressive alopecia that was first observed at 12 weeks of age. CLINICAL FINDINGS: Patchy alopecia was confined to the black-haired areas of the body, and was most evident on the head and dorsum of the body; tan-haired areas of skin appeared normal. Histological examination of black-haired skin revealed distended melanocytes and large aggregates of melanin within, and surrounding, the hair follicles and the epidermis. Macrophages distended with melanin were also visible within the peri-follicular and superficial dermis, and follicular lumina were often plugged by keratin that contained aggregates of melanin. The follicles were dysplastic and few hair shafts were visible emerging from follicular infundibula within the sections. DIAGNOSIS: The clinical and histological findings were consistent with black-hair follicular dysplasia (BHFD). CLINICAL RELEVANCE: This is the first report of BHFD in a dog in New Zealand, and is the first report in a Huntaway. The most significant effect of BHFD is a predisposition to follicular plugging and secondary bacterial skin infections. Due to the hereditary nature of the follicular dysplasias, breeding from affected dogs should be discouraged. Histological examination of the skin is required to differentiate between the different follicular dysplasias as well as differentiating between follicular dysplasia and follicular atrophy due to endocrinopathy.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Cardiomyopathy and woolly haircoat syndrome (CWH) of Poll Hereford cattle is a lethal, autosomal recessive disorder. Cardiac and haircoat changes are congenital, neonatal ocular keratitis develops in some cases and death usually occurs within the first 12 weeks of life. We undertook a homozygosity mapping approach to identify the chromosomal location of the causative gene. Seven candidate genes were examined for homozygosity in affected animals: desmoplakin and junction plakoglobin (both previously implicated in human cardiocutaneous syndromes), desmocollin 2, desmoglein 2, plakophilin 2, nuclear factor kappa B (NFKB1) and NFkappaB interacting protein 1 (PPP1R13L, also known as NKIP1). Homozygosity in 13 affected animals was observed at the PPP1R13L locus, located on bovine chromosome 18. Subsequent sequence analysis revealed a 7-bp duplication (c.956_962dup7) in exon 6 of this 13-exon gene. This frameshift variant is predicted to result in the substitution of three amino acids and the introduction of a premature stop codon at position 325 of the protein product (p.Ser322GlnfsX4). PPP1R13L interacts with NFkappaB, a family of structurally related transcription factors that regulate genes controlling inflammation, immune responses and cell proliferation and survival. CWH represents a large-animal model for cardiocutaneous disorders caused by a mutation in the PPP1R13L gene. The identification of this bovine mutation also indicates that PPP1R13L and other genes affecting NFkappaB activity may be candidate genes in the study of human cardiovascular disease.