Haim–Munk syndrome (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis") is a cutaneous condition caused by a mutation in the cathepsin C gene. It was named after Dr. Salim Haim and Dr. Munk.

An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive.

The classification of this syndrome is difficult. Three conditions are known to be caused by mutations in the" CYLD" gene: Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. Clinically, these are distinct, but appear to arise from mutations in the same gene.

Types include:

Singleton Merten Syndrome is an autosomal dominate genetic disorder with variable expression with an onset of symptoms during childhood.

Clinical:

Patients often present with a history of fever of unknown origin, muscular weakness, poor development, abnormal dentition, normal serum calcium, phosphorus, and alkaline phosphatase levels. Associated clinical findings also include glaucoma, photosensitivity, heart block, foot deformities, and chronic psoriasiform skin lesions.

Radiological:

Classic radiologic findings were first described by Edward B. Singleton and David Merten in 1973.

Typical radiographic appearances include skeletal demineralization, expanded shafts of the metacarpals and phalanges with widenend medullary cavities, cardiomegaly, and intramural calcification of the proximal aorta with occasional extension into the aortic or mitral valves.

Other commonly seen radiographic findings include shallow acetabular fossa, subluxation of the femoral head, coxa valga, hypoplastic radial epiphysis, soft tissue calcifications between the radius and ulna, constriction of the proximal radial shaft, acro-osteolysis, and equinovarus foot deformities.

Brooke-Spiegler syndrome is a condition where multiple skin tumors develop from skin structures. Tumors commonly occurring in this syndrome include spiradenomas, trichoepitheliomas, and cylindromas. The tumors are generally benign, but may become malignant. Affected individuals are also at increased risk of developing tumors in tissues other than skin – particularly benign or malignant tumors of the salivary glands.

Tumours in Brooke-Spiegler typically appear in early adulthood and are most often found on the head and neck. In severe cases, the tumors may affect vision or hearing. They can be disfiguring and may contribute to depression or other psychological problems. For unclear reasons, females are often more severely affected than males.

Brooke-Spiegler is rare and its exact incidence is unknown.

It is inherited in an autosomal dominant fashion.

Symptoms of Winchester syndrome begin with the deterioration of bone within the hands and feet. This loss of bone causes pain and limited mobility. The abnormalities of the bone spread to other areas of the body, mostly the joints. This causes arthropathy: stiffening of the joints (contractures) and swollen joints. Many people develop osteopenia and osteoporosis throughout their entire body. Due to the damage to the bones, many affected individuals suffer from short stature and bone fractures.

Many individuals experience leathery skin where the skin appears dark and thick. Excessive hair growth is known to be found in these darker areas of the skin (hypertrichosis). The eyes may develop a white or clear covering the cornea (corneal opacities) which can cause problems with vision.

Lipomatosis is believed to be an autosomal dominant condition in which multiple lipomas are present on the body. Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders. In 1993, a genetic polymorphism within lipomas was localized to chromosome 12q15, where the HMGIC gene encodes the high-mobility-group protein isoform I-C. This is one of the most commonly found mutations in solitary lipomatous tumors but lipomas often have multiple mutations. Reciprocal translocations involving chromosomes 12q13 and 12q14 have also been observed within.

Although this condition is benign, it can sometimes be very painful depending on location of the lipomas. Some patients who are concerned with cosmetics seek removal of individual lipomas. Removal can include simple excision, endoscopic removal, or liposuction.

Other entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due to PTEN gene mutations, benign symmetric lipomatosis (Madelung disease),Dercum's Disease, familial lipodystrophy, hibernomas, epidural steroid injections with epidural lipomatosis, and familial angiolipomatosis.

Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The disease may be present at birth or occur shortly thereafter. The cause is unknown. Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease.

Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome (also known as "HOPP syndrome") is a cutaneous condition characterized by a prominent palmoplantar keratoderma.

Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous calcification or ossification.

Individuals with an enchondroma often have no symptoms at all. The following are the most common symptoms of an enchondroma. However, each individual may experience symptoms differently. Symptoms may include:

- Pain that may occur at the site of the tumor if the tumor is very large, or if the affected bone has weakened causing a fracture of the affected bone

- Enlargement of the affected finger

- Slow bone growth in the affected area

The symptoms of enchondroma may resemble other medical conditions or problems. Always consult your physician for a diagnosis.

Winchester syndrome is a rare congenital connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA). However, it was discovered that the two are caused by mutations found in different genes; they are now thought of as two separate disorders. Appearances resemble rheumatoid arthritis. Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis. Winchester syndrome is thought to be inherited as an autosomal recessive trait.

The symptoms of Gorham's disease vary depending on the bones involved. It may affect any part of the skeleton, but the most common sites of disease are the shoulder, skull, pelvic girdle, jaw, ribs, and spine.

In some cases there are no symptoms until a fracture occurs either spontaneously or following minor trauma, such as a fall. There may be an acute onset of localized pain and swelling. More commonly there is pain of no apparent cause that increases in frequency and intensity over time and may eventually be accompanied by weakness and noticeable deformity of the area. The rate of progression is unpredictable and the prognosis can be difficult. The disease may stabilize after a number of years, go into spontaneous remission, or, in cases involving the chest and upper spine, prove fatal. Recurrence of the disease following remission can also occur. Involvement of the spine and skull base may cause a poor outcome from neurological complications. In many cases, the end result of Gorham's disease is severe deformity and functional disability.

Symptoms such as difficulty breathing and chest pain may be present if the disease is present in the ribs, scapula, or thoracic vertebrae. These may indicate that the disease has spread from the bone into the chest cavity. The breathing problems may be misdiagnosed as asthma, because the damage done to the lungs can cause the same types of changes to lung function testing that are seen in asthma. Extension of the lesions into the chest may lead to the development of chylous pleural and pericardial effusions. Chyle is rich in protein and white blood cells that are important in fighting infection. The loss of chyle into the chest can have serious consequences, including infection, malnutrition, and respiratory distress and failure. These complications or their symptoms, such as difficulty breathing, chest pain, poor growth or weight loss, and infection have sometimes been the first indications of the condition.

Acroosteolysis is resorption of the distal bony phalanges. Acroosteolysis has two patterns of resorption in adults: diffuse and bandlike.

The diffuse pattern of resorption has a widely diverse differential diagnosis which includes: pyknodysostosis, collagen vascular disease and vasculitis, Raynaud's neuropathy, trauma, epidermolysis bullosa, psoriasis, frostbite, sarcoidosis, hypertrophic osteoarthropathy, acromegaly, and advanced leprosy.

The bandlike pattern of resorption may be seen with polyvinyl chloride exposure and Hadju-Cheney syndrome.

A mnemonic commonly used for acro-osteolysis is PINCHFO.

Pyknodysostosis, Psoriasis,

Injury (thermal burn, frostbite),

Neuropathy (diabetes),

Collagen vascular disease (scleroderma, Raynaud's),

Hyperparathyroidism,

Familial (Hadju-Cheney, progeria),

Occupational (polyvinyl exposure),

Acroosteolysis may be associated with minimal skin changes or with ischemic skin lesions that may result in digital necrosis.

Confluent and reticulated papillomatosis of Gougerot and Carteaud (also known as "Confluent and reticulated papillomatosis," "CRP", "CARP", "Familial cutaneous papillomatosis," and "Familial occurrence of confluent and reticulated papillomatosis") is an uncommon but distinctive acquired ichthyosiform dermatosis characterized by persistent dark, scaly, papules and plaques that tend to be localized predominantly on the central trunk.

Signs of familial dysbetaproteinemia include xanthoma striatum palmare (orange or yellow discoloration of the palms) and tuberoeruptive xanthomas over the elbows and knees. The disease leads to premature atherosclerosis and therefore a possible early onset of coronary artery disease and peripheral vascular disease leading to a heart attack, i.e. myocardial infarction, chest pain on exercise, i.e. angina pectoris or stroke in young adults or middle aged patients.

PAPA syndrome usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty.

The arthritis is the predominant feature, noted by its juvenile onset and destructive course. Individuals often recall episodes of arthritis precipitated by a traumatic event. With repeated episodes the joints become damaged with multiple joint replacements required. Hopefully, with improved treatment options, the damage will be limited in new cases.

Pyoderma gangrenosum is variably expressed, which means that it is not always present in all individuals with the disease. It presents as poorly healing ulcers with undermined edges. Pathergy is an important feature (this term refers to the tendency of ulcers to arise at points of injury). There are reports of lesions developing at the site of a joint replacement wound, central venous line and intravenous drip insertion.

Acne affects most individuals with PAPA syndrome but to a variable degree. It is usually of a severe nodulocystic type which if untreated results in scarring.

An enchondroma may occur as an individual tumor or several tumors. The conditions that involve multiple lesions include the following:

- Ollier disease (enchondromatosis) - when multiple sites in the body develop the tumors. Ollier disease is very rare.

- Maffucci's syndrome - a combination of multiple tumors and angiomas (benign tumors made up of blood vessels).

Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone disease, is a very rare skeletal condition of unknown cause, characterized by the uncontrolled proliferation of distended, thin-walled vascular or lymphatic channels within bone, which leads to resorption and replacement of bone with angiomas and/or fibrosis. Current treatments are experimental only.

Henri Gougerot and Alexandre Carteaud originally described the condition in 1927. The cause remains unknown, but the observation that the condition may clear with Minocycline turned attention to an infectious agent. "Actinomycete Dietzia" strain X was isolated from one individual. Other antibiotics found useful include azithromycin, fusidic acid, clarithromycin, erythromycin, tetracycline and cefdinir.

Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as remnant hyperlipidemia, "remnant hyperlipoproteinaemia", "broad beta disease" and "remnant removal disease") is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels.

The most distinctive clinical feature is the absence of overflow tears with emotional crying after age 7 months. This symptom can manifest less dramatically as persistent bilateral eye irritation. There is also a high prevalence of breech presentation. Other symptoms include weak or absent suck and poor tone, poor suck and misdirected swallowing, and red blotching of skin.

Symptoms in an older child with familial dysautonomia might include:

1. Delayed speech and walking

2. Unsteady gait

3. Spinal curvature

4. Corneal abrasion

5. Less perception in pain or temperature with nervous system.

6. Poor growth

7. Erratic or unstable blood pressure.

8. Red puffy hands

9. Dysautonomia crisis: a constellation of symptoms in response to physical and emotional stress; usually accompanied by vomiting, increased heart rate, increase in blood pressure, sweating, drooling, blotching of the skin and a negative change in personality.

The afflicted may have relatively small amounts of pain that will quickly increase in severity over a time period of 6–12 weeks. The skin temperature around the bone may increase, a bony swelling may be evident, and movement may be restricted in adjacent joints.

Spinal lesions may cause quadriplegia and patients with skull lesions may have headaches.

As the grinding components cause metal flakes to shed from the system, the implant wears down. Metallosis results in numerous additional side effects:

- Confusion;

- Feelings of malaise;

- Gastrointestinal problems;

- Emotional disturbance;

- Recurring infections;

- Dizziness;

- Headaches;

- Problems in the nervous system (feelings of burning, tingling, or numbness of the extremities); and

- Cobalt poisoning (skin rashes, cardiomyopathy, problems with hearing, sight or cognition, tremors, and hypothyroidism).