Ear, Nose and Throat
The generalised underproduction of body fluids leads to several problems. Saliva is sparse, causing problems with chewing, tasting and swallowing foods. The mucous secretions of the nose are excessively thick, forming a crusty mass. Nasal infections are common and are usually accompanied by a foul odour. A hoarse, raspy voice is common. Earwax may be impacted. Hearing loss may occur secondary to wax impaction or to nerve degeneration.
Most people with ED have normal vision and appear to have no greater need for glasses than anyone else. However, visual problems in ED may be caused by lack of tears, infections (conjunctivitis), corneal scars, cataracts and retinal changes. Sensitivity to light (photophobia) has several causes; abrasion caused by eyelashes which grow in an abnormal direction (distichiasis), inadequate tears and infection.
The scalp hair is absent, sparse, fine, lightly pigmented, or abnormal in texture. The hair may also be fragile and unruly, sticking out in all directions and difficult to comb. The hair is dry because the oil glands are absent or poorly developed. Some defects of the hair are evident at birth, while others are not noted until later in life. Hair growth is slow, but regular haircuts should still be carried out to encourage growth. After puberty hair growth improves in some cases. The eyebrows, eyelashes, and other body hair may also be absent or sparse, but beard growth in males is usually normal.
Nails may be poorly developed, small, thick or thin, brittle, discoloured, cracked, or ridged. In addition, they grow slowly, are shed periodically, and develop light spots, lines, or patches. The nails may become infected by fungus or yeast. If they do, they may become thick, discoloured and have a bad odour.
The linings of the nose, larynx, trachea and lungs are moistened by various glands, some of which may be defective in ED. Respiratory problems are therefore quite common.
The skin is lightly pigmented and appears thin. The surface blood vessels may be visible. Despite the general decrease in pigmentation, there is often increased pigmentation around the eyes or on the elbows, palms and soles. The heavily pigmented skin around the eyes is wrinkled and that on the palms and soles may be thick. The skin is often dry, scaly, and easily irritated, particularly in the winter. The dryness is caused by poorly developed or absent oil glands in the skin. There may be redness and peeling of the skin shortly after birth, or persistent nappy rashes later in infancy. Eczema is common.
Diminished or absent sweating is a common problem. The sweat glands are absent, reduced in number, or may not function normally. Reduced sweating may result in very high fevers, because the body regulates its temperature by sweating. Often, the first clue that the sweat glands are absent or are not functioning normally is an elevated temperature. Elevations in body temperature are often caused by high environmental temperatures, excessive activity, or heavy clothing. When the body temperature is elevated, the skin feels dry, hot and may be flushed or pale.
Bad behaviour in young children is common when they are overheating due to reduced or absent sweating.
The teeth may be missing altogether or reduced in number. Teeth that are present are widely spaced, tapered, or malformed. In persons with some types of ED, the enamel (outer layer of the teeth) is defective and there may be an excessive number of cavities. When teeth are missing the jawbones in which they are ordinarily embedded do not develop well, leading to a typical old age appearance of the face.