Test Detail
Hereditary nasal parakeratosis (HNPK)
Dermatológico · Dog
Molecular test for hereditary nasal parakeratosis (HNPK), a monogenic autosomal recessive dermatosis of the Labrador retriever that produces crusts and fissures on the nasal planum from an early age. It affects the skin of the muzzle and compromises welfare through discomfort, fissuring and risk of secondary infection, without affecting other systems. The test reports the clear/carrier/affected status for the Labrador variant.
Incidence
Main breed: Labrador retriever. Also described in the Greyhound, with a different variant (OMIA:001373-9615). There are no verifiable population frequency estimates for Spanish populations: limited data.
Breeder management
- Genotype breeding animals before mating.
- Do not cross carrier x carrier (25 % risk of affected homozygotes); carrier x clear produces no affected animals and gives 50 % carriers.
- An affected animal should not be bred; a carrier can be crossed with a clear animal without producing affected animals.
- After a confirmed clinical case, do not repeat the parental cross and communicate the status to the buyer.
- Do not cross carrier x carrier (25 % risk of affected homozygotes); carrier x clear produces no affected animals and gives 50 % carriers.
- An affected animal should not be bred; a carrier can be crossed with a clear animal without producing affected animals.
- After a confirmed clinical case, do not repeat the parental cross and communicate the status to the buyer.
Specialist notes
Differential diagnosis with cutaneous lupus erythematosus, dermatophytosis, pemphigus foliaceus and other nasal keratopathies. Histopathological confirmation shows marked parakeratosis with retention of nuclei in the stratum corneum and serum lakes, without atypia. Symptomatic management with topical moisturisers and keratolytics. The SUV39H2 missense variant is specific to the Labrador; in other breeds nasal hyperkeratosis may have another cause.
References
1. Jagannathan V, Bannoehr J, Plattet P, et al. A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet. 2013;9(10):e1003848. PMID: 24098150.
2. Bauer A, Nimmo J, Newman R, et al. A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Anim Genet. 2018. PMID: 29423952.
3. Balmer P, Hariton WVJ, Sayar BS, et al. SUV39H2 epigenetic silencing controls fate conversion of epidermal stem and progenitor cells. J Cell Biol. 2021;220(4):e201908178. PMID: 33604655.
4. Bannoehr J, Balmer P, Stoffel MH, et al. Abnormal keratinocyte differentiation in the nasal planum of Labrador Retrievers with hereditary nasal parakeratosis (HNPK). PLoS One. 2020. PMID: 32119674.
5. Pagé N, Paradis M, Lapointe JM. Hereditary nasal parakeratosis in Labrador Retrievers. Vet Dermatol. 2003;14(2):67-73. PMID: 12662268.
6. OMIA:001373-9615. Nasal parakeratosis in Canis lupus familiaris. https://omia.org/OMIA001373/9615/
2. Bauer A, Nimmo J, Newman R, et al. A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Anim Genet. 2018. PMID: 29423952.
3. Balmer P, Hariton WVJ, Sayar BS, et al. SUV39H2 epigenetic silencing controls fate conversion of epidermal stem and progenitor cells. J Cell Biol. 2021;220(4):e201908178. PMID: 33604655.
4. Bannoehr J, Balmer P, Stoffel MH, et al. Abnormal keratinocyte differentiation in the nasal planum of Labrador Retrievers with hereditary nasal parakeratosis (HNPK). PLoS One. 2020. PMID: 32119674.
5. Pagé N, Paradis M, Lapointe JM. Hereditary nasal parakeratosis in Labrador Retrievers. Vet Dermatol. 2003;14(2):67-73. PMID: 12662268.
6. OMIA:001373-9615. Nasal parakeratosis in Canis lupus familiaris. https://omia.org/OMIA001373/9615/