Inherited Disorders of the Hair

Acanthosis nigricans – an ill-defined, velvety, hyperpigmented plaque involving the fold of the skin, including the axilla, neck and groin Atrichia – absence of hair Atrophoderma – atrophy of the skin Blepharitis – inflammation of the eyelids Cicatricial alopecia – scarring alopecia Copy number variations – DNA segments with 1 kb or more of gains or losses Corneodesmosin – a protein found in corneodesmosomes that is highly expressed in the upper layers of the epidermis, contributing to the skin membrane barrier. Moreover, corneodesmosin in highly expressed in the inner root sheath of the hair follicle Desmocollins – specialized cadherin proteins that interact with themselves and with other proteins contributing to the formation of desmosomes Desmogleins – specialized cadherin proteins that interact with themselves and with other proteins contributing to the formation of desmosomes Desmoplakins – specialized proteins that connect the intermediate filaments to the desmosomal plaque, contributing to cellular integrity Desmosomes – specialized intercellular structures that function in cell–cell adhesion Ectodermal dysplasia – a group of disorders characterized by abnormal development of at least one of the following structures: hair, nails, sweat glands, and teeth Ectrodactyly – also known as split hand foot. It is characterized by loss or defective central hand or foot digits, giving the appearance of lobster claws Forelock – the area above the central part of the forehead Hemophagocytosis – phagocytosis of blood components by histiocytes. It can occur in the bone marrow and other tissues Heterochromia – a difference in color. Most commonly used to describe different iris colors Ichthyosis – dry, thickened, scaly and flaky skin that resembles the skin of fish