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Symptoms of pterygium include persistent redness, inflammation, foreign body sensation, tearing, dry and itchy eyes. In advanced cases the pterygium can affect vision as it invades the cornea with the potential of obscuring the optical center of the cornea and inducing astigmatism and corneal scarring. Many patients do complain of the cosmetic appearance of the eye either with some of the symptoms above or as their major complaint.
A pterygium is a pinkish, triangular tissue growth on the cornea of the eye. It typically starts on the cornea near the nose. It may slowly grow but rarely grows so large that the pupil is covered. Often both eyes are involved.
The cause is unclear. It appears to be partly related to long term exposure to UV light and dust. Genetic factors also appear to be involved. It is a benign growth. Other conditions that can look similar include a pinguecula, tumor, or Terrien's marginal corneal degeneration.
Prevention may include wearing sunglasses and a hat if in an area with strong sunlight. Among those with the condition, an eye lubricant can help with symptoms. Surgical removal is typically only recommended if the ability to see is affected. Following surgery a pterygium may recur in around half of cases.
The frequency of the condition varies from 1% to 33% in various regions of the world. It occurs more commonly among males than females and in people who live closer to the equator. The condition becomes more common with age. The condition has been described since at least 1000 BC.
Hereditary benign intraepithelial dyskeratosis is a rare autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q35. In the mouth it appears similar to white sponge nevus, with painless, diffuse, folded and spongy white plaques. In the eye it appears as gelatinous plaques on bulbar perilimbal conjunctiva.
Pterygium inversum unguis (also known as "Pterygium inversus unguis," and "Ventral pterygium") is characterized by the adherence of the distal portion of the nailbed to the ventral surface of the nail plate. The condition may be present at birth or acquired, and may cause pain with manipulation of small objects, typing, and close manicuring of the nail.
On babies, webbed neck may look like loose folds of skin on the neck. As the child grows, the skin may stretch out to look like there is little or no neck.
A limbal nodule is any nodular lesion at the limbus (junction of the cornea and sclera) of the eye.
The differential diagnosis for a limbal nodule can include:
- Pinguecula
- Early Pterygium
- Foreign body / foreign body granuloma
- Phlycten, an inflamed nodule of lymphoid tissue
- Episcleritis
- Scleritis
- Granuloma
- Limbal dermoid, a kind of choristoma (NB: in other organs "dermoid" can refer to a teratoma)
- malignant melanoma
Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square meters, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm that forms the dermis and subcutaneous tissues.
The epidermis is the most superficial layer of skin, a squamous epithelium with several strata: the stratum corneum, stratum lucidum, stratum granulosum, stratum spinosum, and stratum basale. Nourishment is provided to these layers by diffusion from the dermis, since the epidermis is without direct blood supply. The epidermis contains four cell types: keratinocytes, melanocytes, Langerhans cells, and Merkel cells. Of these, keratinocytes are the major component, constituting roughly 95 percent of the epidermis. This stratified squamous epithelium is maintained by cell division within the stratum basale, in which differentiating cells slowly displace outwards through the stratum spinosum to the stratum corneum, where cells are continually shed from the surface. In normal skin, the rate of production equals the rate of loss; about two weeks are needed for a cell to migrate from the basal cell layer to the top of the granular cell layer, and an additional two weeks to cross the stratum corneum.
The dermis is the layer of skin between the epidermis and subcutaneous tissue, and comprises two sections, the papillary dermis and the reticular dermis. The superficial papillary dermis with the overlying rete ridges of the epidermis, between which the two layers interact through the basement membrane zone. Structural components of the dermis are collagen, elastic fibers, and ground substance. Within these components are the pilosebaceous units, arrector pili muscles, and the eccrine and apocrine glands. The dermis contains two vascular networks that run parallel to the skin surface—one superficial and one deep plexus—which are connected by vertical communicating vessels. The function of blood vessels within the dermis is fourfold: to supply nutrition, to regulate temperature, to modulate inflammation, and to participate in wound healing.
The subcutaneous tissue is a layer of fat between the dermis and underlying fascia. This tissue may be further divided into two components, the actual fatty layer, or panniculus adiposus, and a deeper vestigial layer of muscle, the panniculus carnosus. The main cellular component of this tissue is the adipocyte, or fat cell. The structure of this tissue is composed of septal (i.e. linear strands) and lobular compartments, which differ in microscopic appearance. Functionally, the subcutaneous fat insulates the body, absorbs trauma, and serves as a reserve energy source.
Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology (chronic blistering conditions), etiology (skin conditions resulting from physical factors), and so on. Clinically, the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules, vesicles), and color (red, blue, brown, black, white, yellow). Diagnosis of many conditions often also requires a skin biopsy which yields histologic information that can be correlated with the clinical presentation and any laboratory data.
Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion.
A distichia is an eyelash that arises from an abnormal spot on the eyelid. This abnormality, attributed to a genetic mutation, is known to affect dogs and humans. Distichiae (the abnormal eyelash) usually exit from the duct of the meibomian gland at the eyelid margin. They are usually multiple and sometimes more than one arises from a duct. They can affect either the upper or lower eyelid and are usually bilateral. The lower eyelids of dogs usually have no eyelashes.
Distichiae usually cause no symptoms because the lashes are soft, but they can irritate the eye and cause tearing, squinting, inflammation, and corneal ulcers and scarring. Treatment options include manual removal, electrolysis, electrocautery, cryotherapy, and surgery.
Conjunctival concretions are generally asymptomatic. Common symptoms include eye discomfort, eye irritation, and foreign body sensation. Sometimes, the larger, harder or multiple concretions make the rubbing off of the superficial layers of the conjunctiva or eyelids to cause conjunctival abrasion, especially prominent when upon blinking. In severe cases, dysfunction or inflammation of the Meibomian (Meibomianitis, an inflammation of the tarsal glands) glands may occur.
Bitot's spots are the buildup of keratin located superficially in the conjunctiva, which are oval, triangular or irregular in shape. These spots are a sign of vitamin A deficiency and are associated with conjunctival xerosis. In 1863, Pierre Bitot (1822-1888), a French physician, first described these spots.
In ancient Egypt, this was treated with animal liver, which is where vitamin A is stored.
Juvenile xanthogranuloma (JXG) is a form of histiocytosis, classified as "non-Langerhans cell histiocytosis", or more specifically, "type 2".
It is a rare skin disorder that primarily affects children under one year of age but can also be found in older children and adults. It was first described in 1905 by Adamson. In 5% to 17% of people, the disorder is present at birth, but the median age of onset is two years. JXG is a benign idiopathic cutaneous granulomatous tumor and the most common form of non-Langerhans cell histiocytosis (non-LHC). The lesions appear as orange-red macules or papules and are usually located on the face, neck, and upper trunk. They may also appear at the groin, scrotum, penis, clitoris, toenail, palms, soles, lips, lungs, bone, heart, and gastrointestinal tract more rarely. JXG usually manifests with multiple lesions on the head and neck in cases with children under six months of age. The condition usually resolves spontaneously over one to five years. A biopsy of the lesion is critical to confirm the diagnosis.
Ocular JXG manifests in up to 10% of people with JXG and may affect their vision. The presence of JXG in the eye can cause spontaneous hyphema, secondary glaucoma or even blindness. It is most often seen in the iris but may be found on the eyelid, corneoscleral limbus, conjunctiva, orbit, retina, choroid, disc, or optic nerve. Of patients with ocular JXG, 92% are younger than the age of two. Although cutaneous JXG usually disappear spontaneously, ocular lesions rarely improve spontaneously and require treatment. Treatments that have been used include surgical excision, intralesional steroid injection, cryotherapy, and low dose radiotherapy. In the case of a resistant or reoccurring lesion, chemotherapy has been used as a treatment. Ocular JXG is usually unilateral and presents with a tumor, a red eye with signs of uveitis, unilateral glaucoma, spontaneous hyphema or heterochromia iridis. Diagnosing and treating the patient as early as possible contributes to the most positive visual outcome.
Histiocytic disorders like JXG are identified by the cells that make them up. Immunohistochemical analysis is used to discern the immunoreactivity to certain antibodies in these analyses. JXG is a non-LHC disorder which is a varied group of disorders defined by the accumulation of histiocytes that do not meet criteria to be diagnosed as Langerhans cells. JXG is not metastatic and may be present with lipid deposits. JXG is often accompanied with other disorders such as neurofibromatosis type one and juvenile chronic myelogenous leukemia. Juvenile variety xantogranuloma can be distinguished from xanthoma by the spread of the lesion and the lack of lipid abnormalities. Other similar diagnoses include molluscum contagiosum, hemangioma and neurofibroma.
Chronic conjunctivitis (e.g. trachoma) and aging factor are two causes of conjunctival concretion, which will make the conjunctiva cellular degeneration to produce an epithelial inclusion cyst, filled with epithelial cells and keratin debris. After calcification, the conjunctival cyst hardens and forms a conjunctival concretion. Congenital conjunctival concretion condition is also more common.
An imperforate lacrimal punctum is a congenital disorder of dogs involving the lack of an opening to the nasolacrimal duct (tear duct) in the conjunctiva. Dogs normally have two lacrimal puncta, the superior and inferior. This condition can affect either or both. Symptoms include excessive tearing and tear staining of the hair around the eye. Affected breeds include the American Cocker Spaniel, Bedlington Terrier, Golden Retriever, Poodle, and Samoyed. Imperforate lacrimal puncta can be corrected by surgical opening of the punctum.
It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or Diamond-Blackfan Anemia
Lid lag is the static situation in which the upper eyelid is higher than normal with the globe in downgaze. It is most often a sign of thyroid eye disease, but may also occur with cicatricial changes to the eyelid or congenital ptosis. Lid lag differs from Von Graefe's sign in that the latter is a dynamic process.It can also be the manifestaition of chemosis (swelling (or edema) of the conjunctiva)
Primary lymphedema is a form of lymphedema which is not directly attributable to another medical condition.
It can be divided into three forms, depending upon age of onset: congenital lymphedema, lymphedema praecox, and lymphedema tarda.
Congenital lymphedema presents at birth. Lymphedema praecox presents from ages 1 to 35. This type of lymphedema accounts for 77–94% of all cases of primary lymphedema. Lymphedema tarda presents after age 35. This type of lymphedema usually develops as a result of a developmental abnormality being precipitated by some insult such as trauma, illness, or physical immobility. Compared to secondary lymphedema, primary lymphedema is more likely to involve the face, conjunctiva, and genitalia in association with any limbs involved.
It can be familial.
Clinical expressions of PPS are highly variable, but include the following:
- Limb findings: an extensive web running from behind the knee down to the heel (90%), malformed toenails, and webbed toes.
- Facial findings: cleft palate with or without cleft lip (75%), pits in the lower lip (40%), and fibrous bands in the mouth known as syngnathia (25%).
- Genital findings (50%): hypoplasia of the labia majora, malformation of the scrotum, and cryptorchidism.
Actinic elastosis usually appears as thickened, dry, wrinkled skin. Several clinical variants have been recorded. One of the most readily identifiable is the thickened, deeply fissured skin seen on the back of the chronically sun-exposed neck, known as cutis rhomboidalis nuchae. These features are a part of the constellation of changes that are seen in photoaged skin.
A pinguecula is a common type of conjunctival degeneration in the eye.
Oculomucocutaneous syndrome is characterized by keratoconjunctivitis sicca and by scarring, fibrosis, metaplasia, and shrinkage of the conjunctiva. It is a drug side effect observed in practolol and eperisone. It is speculated that antibodies against drug metabolites cause the syndrome.
Age: The mucocutaneous features of DKC typically develop between ages 5 and 15 years. The median age of onset of the peripheral cytopenia is 10 years.
Sex: The male-to-female ratio is approximately 3:1.
Physical: The triad of reticulated hyperpigmentation of the skin, nail dystrophy, and leukoplakia characterizes DKC. The syndrome is clinically heterogeneous; in addition to the diagnostic mucocutaneous features and bone marrow failure, affected individuals can have a variety of other clinical features.
Cutaneous findings:
The primary finding is abnormal skin pigmentation, with tan-to-gray hyperpigmented or hypopigmented macules and patches in a mottled or reticulated pattern. Reticulated pigmentation occurs in approximately 90% of patients. Poikilodermatous changes with atrophy and telangiectasia are common.
The cutaneous presentation may clinically and histologically resemble graft versus host disease. The typical distribution involves the sun-exposed areas, including the upper trunk, neck, and face. Other cutaneous findings may include alopecia of the scalp, eyebrows, and eyelashes; premature graying of the hair; hyperhidrosis; hyperkeratosis of the palms and soles; and adermatoglyphia (loss of dermal ridges on fingers and toes).
Nail findings:
Nail dystrophy is seen in approximately 90% of patients, with fingernail involvement often preceding toenail involvement.
Progressive nail dystrophy begins with ridging and longitudinal splitting. Progressive atrophy, thinning, pterygium, and distortion eventuate in small, rudimentary, or absent nails.
Mucosal findings:
Mucosal leukoplakia occurs in approximately 80% of patients and typically involves the buccal mucosa, tongue, and oropharynx. The leukoplakia may become verrucous, and ulceration may occur. Patients also may have an increased prevalence and severity of periodontal disease.
Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus). Constriction and stenosis can occur at these sites, with subsequent development of dysphagia, dysuria, phimosis, and epiphora.
Bone marrow failure:
Approximately 90% have peripheral cytopenia of one or more lineages. In some cases, this is the initial presentation, with a median age of onset of 10 years.
Bone marrow failure is a major cause of death, with approximately 70% of deaths related to bleeding and opportunistic infections as a result of bone marrow failure.
Pulmonary complications:
Approximately 20% of individuals with DKC develop pulmonary complications, including pulmonary fibrosis and abnormalities of pulmonary vasculature.
The recommendation is that DKC patients avoid taking drugs with pulmonary toxicity (e.g., busulfan) and that they have their lungs shielded from radiation during BMT.
Increased risk of malignancy:
Patients have an increased prevalence of malignant mucosal neoplasms, particularly squamous cell carcinoma of the mouth, nasopharynx, esophagus, rectum, vagina, or cervix. These often occur within sites of leukoplakia.
The prevalence of squamous cell carcinoma of the skin is also increased. Other malignancies reported include Hodgkin lymphoma, adenocarcinoma of the gastrointestinal tract, and bronchial and laryngeal carcinoma.
Malignancy tends to develop in the third decade of life.
Neurologic system findings: Patients may have learning difficulties and mental retardation.
Ophthalmic system findings: DKC reportedly is associated with conjunctivitis, blepharitides, and pterygium. Lacrimal duct stenosis resulting in epiphora (i.e., excessive tearing) occurs in approximately 80% of patients.
Skeletal system findings: Patients may have mandibular hypoplasia, osteoporosis, avascular necrosis, and scoliosis.
Gastrointestinal system findings: These may include esophageal webs, hepatosplenomegaly, enteropathy, and cirrhosis.
Genitourinary system findings:: Hypospastic testes, hypospadias, and ureteral stenosis are reported.
Female carriers: Female carriers of DKC may have subtle clinical features. One study showed that 3 of 20 female carriers had clinical features that included a single dystrophic nail, a patch of hypopigmentation, or mild leukoplakia.
Pterygium unguis (also known as "Dorsal pterygium") forms as a result of scarring between the proximal nailfold and matrix, with the classic example being lichen planus, though it has been reported to occur as a result of sarcoidosis and Hansen's disease.
The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva and oral mucosa. Cardiac myxomas may lead to embolic strokes and heart failure and may present with fever, joint pain, shortness of breath, diastolic rumble and tumor plop. Myxomas may also occur outside the heart, usually in the skin and breast. Endocrine tumors may manifest as disorders such as Cushing syndrome. The most common endocrine gland manifestation is an ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD).
The LAMB acronym refers to lentigines, atrial myxomas, and blue nevi. NAME refers to nevi, atrial myxoma, myxoid neurofibromas, and ephelides.
Testicular cancer, particularly Sertoli cell type, is associated with Carney syndrome. Thyroid and pancreas cancer may also occur.
Although J Aidan Carney also described Carney's triad it is entirely different.
Ophthalmia nodosa is a cutaneous condition characterized by inflammation of the eye due to lodging of (for example) caterpillar hairs in the conjunctiva, cornea, or iris.