NAVLE Integumentary

Feline Congenital Hypotrichosis and Alopecia – NAVLE Study Guide

Congenital hypotrichosis and alopecia represent a group of inherited disorders characterized by reduced (hypotrichosis) or absent (alopecia) hair from birth or early in life.

Overview and Clinical Importance

Congenital hypotrichosis and alopecia represent a group of inherited disorders characterized by reduced (hypotrichosis) or absent (alopecia) hair from birth or early in life. These conditions result from abnormal hair follicle development, structure, or function due to genetic mutations affecting ectodermal tissue differentiation. While relatively rare in the general feline population, these disorders are particularly important in certain breeds and have significant clinical and breeding implications.

In cats, congenital hypotrichosis ranges from the desirable breed characteristics seen in Sphynx and Devon Rex cats to pathological conditions such as Birman hypotrichosis with thymic aplasia, which carries a grave prognosis. Understanding the genetic basis, clinical presentation, and breed predispositions is essential for accurate diagnosis, appropriate client counseling, and responsible breeding recommendations.

Term Definition
Alopecia Complete absence of hair in areas where it normally grows
Hypotrichosis Presence of less hair than normal; reduced hair density or quality
Follicular Dysplasia Abnormal development or structure of hair follicles
Ectodermal Dysplasia Developmental abnormality affecting structures derived from ectoderm (hair, teeth, claws, sweat glands)
Congenital Present at birth or developing shortly after birth
Tardive Late-onset; animals born with normal coat that develops abnormalities later

Definitions and Terminology

Key Terms

High-YieldOn NAVLE, remember that hypotrichosis (reduced hair) is more common than true alopecia (absent hair). Congenital forms are present at birth or develop within the first few weeks of life, while tardive forms appear later despite normal coat at birth.
Breed Gene/Mutation Inheritance Phenotype
Sphynx KRT71 c.816+1G>A (hr allele) Autosomal recessive Hairless with fine down; wrinkled skin
Devon Rex KRT71 complex alteration (re allele) Autosomal recessive Short, curly, soft coat; may develop hypotrichosis
Birman FOXN1 c.1030_1033delCTGT Autosomal recessive Hairless + thymic aplasia; fatal
Siamese Unknown gene Autosomal recessive Hypotrichosis; viable (different from Birman)

Etiology and Pathophysiology

Normal Hair Follicle Structure

Understanding normal hair follicle anatomy is essential for comprehending the pathophysiology of hypotrichosis. The pilosebaceous unit consists of the hair follicle, sebaceous gland, and arrector pili muscle. The hair follicle has three main segments: the infundibulum (upper portion), isthmus (middle), and inferior segment/bulb (lower portion containing the dermal papilla and hair matrix).

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