The Aagenæs syndrome or Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.

The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin. The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the United States. It is named after Øystein Aagenæs, a Norwegian paediatrician.

It is also called cholestasis-lymphedema syndrome (CLS).

Palmar erythema has no specific treatment. Management is based on the underlying cause. When its cause is treated then patients get relief. If it is attributable to a particular drug then the drug should be withdrawn.

Reynolds syndrome is a rare secondary laminopathy, consisting of the combination of primary biliary cirrhosis and progressive systemic sclerosis. In some patients this syndrome has also been associated with Sjögren's syndrome and hemolytic anemia. Typical clinical features include jaundice, elevated blood levels of alkaline phosphatase, calcinosis cutis, telangiectasias, and pruritus. This disease may cause white or yellow-ish spots on the arms or legs. The syndrome, a special case of scleroderma, is named after the American physician, Telfer B. Reynolds, MD (1921–2004), who first described it. He is also known for creating one of the world's first hepatology programs at the University of Southern California.

It should not be confused with the more common Raynaud's phenomenon.

Senter syndrome (also known as "Desmons' syndrome") is a cutaneous condition characterized by similar skin changes and congenital hearing impairment to keratitis–ichthyosis–deafness syndrome, but is associated with glycogen storage leading to hepatomegaly, hepatic cirrhosis, growth failure and mental retardation.

This not known with certainty but is estimated to be about one per million. It appears to be more common in females than males.

It is associated with various physiological as well as pathological changes, or may be a normal finding:

- Portal hypertension

- Chronic liver disease (including chronic hepatitis)

- Pregnancy

- Polycythemia

- Thyrotoxicosis

- Rheumatoid arthritis (especially in patients with polycythaemia)

- Eczema and psoriasis

- Deep telangiectasias

- Coxsackievirus A infection (Hand, foot and mouth disease)

- Rocky Mountain spotted fever

- Secondary syphilis

- Kawasaki disease

- Adverse drug reaction: palmoplantar erythrodysesthesia (acral erythema)

Because circulating levels of estrogen increase in both cirrhosis and pregnancy, estrogen was thought to be the cause for the increased vascularity. More recently, nitric oxide has been implicated in the pathogenesis of palmar erythema.

Familial partial lipodystrophy (FPL), also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.

FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.

As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.

Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.

Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.

Currently there are two ongoing clinical trials undergoing recruitment in the United States and worldwide to evaluate investigational medicines that could possibly treat TTR.

Terry's nails is a physical condition in which a person's fingernails or toenails appear white with a characteristic "ground glass" appearance without any lunula. The condition is thought to be due to a decrease in vascularity and an increase in connective tissue within the nail bed. It frequently occurs in the setting of liver failure, cirrhosis, diabetes mellitus, congestive heart failure, hyperthyroidism, or malnutrition. Eighty percent of patients with severe liver disease have Terry's nails, but they are also found in patients with kidney failure, in patients with congestive heart failure and are described as a brown arc near the ends of the nails. The recognition of characteristic nail patterns, such as Terry’s nails, may be a helpful herald for early diagnosis of systemic diseases.

This was named for Dr. Richard Terry.

ICD 10: L60.8

An estrogen-dependent condition, disease, disorder, or syndrome, is a medical condition that is, in part or full, dependent on, or is sensitive to, the presence of estrogenic activity in the body.

Known estrogen-dependent conditions include mastodynia (breast pain/tenderness), breast fibroids, mammoplasia (breast enlargement), macromastia (breast hypertrophy), gynecomastia, breast cancer, precocious puberty in girls, melasma, menorrhagia, endometriosis, endometrial hyperplasia, adenomyosis, uterine fibroids, uterine cancers (e.g., endometrial cancer), ovarian cancer, and hyperestrogenism in males such as in certain conditions like cirrhosis and Klinefelter's syndrome.

Such conditions may be treated with drugs with antiestrogen actions, including selective estrogen receptor modulators (SERMs) such as tamoxifen and clomifene, estrogen receptor antagonists such as fulvestrant, aromatase inhibitors such as anastrozole and exemestane, gonadotropin-releasing hormone (GnRH) analogues such as leuprolide and cetrorelix, and/or other antigonadotropins such as danazol, gestrinone, megestrol acetate, and medroxyprogesterone acetate.

Kayser–Fleischer rings (KF rings) are dark rings that appear to encircle the iris of the eye. They are due to copper deposition in part of the cornea (Descemet's membrane) as a result of particular liver diseases. They are named after Dr. Bernhard Kayser and Dr. Bruno Fleischer, the German doctors who first described them in 1902 and 1903. Initially thought to be due to the accumulation of silver, they were first demonstrated to contain copper in 1934.

The disorder is treated by strictly reducing the intake of foods rich in plant sterols (e.g., vegetable oils, olives and avocados). However, dietary therapy is often never fully sufficient to control this disease since plant sterols are constituents of all plant-based foods. Statins have been used, and while these lower cholesterol levels and may ameliorate atherosclerotic disease, plant sterol levels are insufficiently lowered by their use alone.

If dietary treatment alone is insufficient, bile acid-binding resins (e.g., cholestyramine, colestipol) could be considered. In October 2002, a new cholesterol absorption inhibitor, ezetimibe, received US Food and Drug Administration (FDA) approval for use in sitosterolemia. This drug is now the standard of care, as it blocks sterol entry and can be used in combination with bile-acid resins.

Finally, ileal bypass has been performed in select cases to decrease the levels of plant sterols in the body, though this therapy was undertaken prior to the advent of ezetimibe.

North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an autosomal recessive abnormality of the "CIRH1A" gene, which codes for cirhin.

NAIC is a ribosomopathy. An R565W mutation of "CIRH1A" leads to partial impairment of cirhin interaction with NOL11.

Initial transient neonatal jaundice advances over time to biliary cirrhosis with severe liver fibrosis. Eventually, liver failure occurs, and requires liver transplantation.

As Kayser–Fleischer rings do not cause any symptoms, it is common for them to be identified during investigations for other medical conditions. In certain situations, they are actively sought; in that case, the early stages may be detected by slit lamp examination before they become visible to the naked eye.

Treatment of lung disease may include bronchodilators, inhaled steroids, and when infections occur antibiotics. Intravenous infusions of the A1AT protein or in severe disease lung transplantation may also be recommended. In those with severe liver disease liver transplantation may be an option. Avoiding smoking and vaccination for influenza, pneumococcus, and hepatitis is also recommended.

Recombinant and inhaled forms of A1AT are being studied. Other experimental therapies are aimed at the prevention of polymer formation in the liver.

At this time there is no treatment for transaldolase deficiency.

There is currently research being done to find treatments for transaldolase deficiency. A study done in 2009 used orally administered N-acetylcysteine on transaldolase deficient mice and it prevented the symptoms associated with the disease. N-acetylcysteine is a precursor for reduced glutathione, which is decreased in transaldolase deficient patients.

Transaldolase deficiency is recognized as a rare inherited pleiotropic metabolic disorder first recognized and described in 2001 that is autosomal recessive. There have been only a few cases that have been noted, as of 2012 there have been 9 patients recognized with this disease and one fetus.

Cruveilhier–Baumgarten disease or Pégot-Cruveilhier–Baumgarten disease is a rare medical condition in which the umbilical or paraumbilical veins are distended, with an abdominal wall bruit (the Cruveilhier-Baumgarten bruit) and palpable thrill, portal hypertension with splenomegaly, hypersplenism and oesophageal varices, with a normal or small liver.

It was first described by Pégot in 1833, and then by Jean Cruveilhier (1835) and Paul Clemens von Baumgarten (1907).

Armstrong "et al." (1942) and Steinburg and Galambos (1967) described two different types of the condition:

- Cruveilhier-Baumgarten syndrome: liver cirrhosis or portal hypertension is the cause of the distension of the paraumbilical veins (i.e. an "acquired" condition in which the veins reopen due to high portal pressure).

- Cruveilhier–Baumgarten disease: the distension of the paraumbilical veins is due to failure of umbilical vein closure, with little or no evidence of liver disease found on liver biopsy (i.e. a "congenital" patency of the umbilical vein leading to portal hypertension).

The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation.

Leukonychia (or leuconychia), also known as white nails or milk spots, is a medical term for white discolouration appearing on nails. It is derived from the Greek words "leuko" ("white") and "nychia" ("nails"). The most common cause is injury to the base of the nail (the matrix) where the nail is formed.

It is harmless and most commonly caused by minor injuries, such as nail biting, that occur while the nail is growing. Leukonychia occurs most commonly in healthy individuals, unrelated to any known nutritional or physiological deficiency. When caused by injury the marks will disappear as the nail grows outwards, however a dietary deficiency will cause recurrent leukonychia.

Other possible reasons for this problem with nail colour can be linked to:

- Arsenic poisoning

- Lead poisoning

- Pneumonia

- Heart disease

- Renal failure

- Ill health

- Hypoalbuminemia

- Vitamin deficiency

- Ulcerative colitis

- Hepatic cirrhosis

- Psychogenic stresses

- Onychophagia

- Occupational trauma

- Zinc deficiency

- Protein deficiency

- Psoriasis as well as eczema

- Iron deficiency

Other medical treatments have been tried and include estrogen and progesterone therapy, Corticostreoids are effective, but are "limited by their side effects."

GAVE is treated commonly by means of an endoscope, including argon plasma coagulation and electrocautery. Since endoscopy with argon photocoagulation is "usually effective", surgery is "usually not required". Coagulation therapy is well-tolerated but "tends to induce oozing and bleeding." "Endoscopy with thermal ablation" is favored medical treatment because of its low side effects and low mortality, but is "rarely curative." Treatment of GAVE can be categorized into endoscopic, surgical and pharmacologic. Surgical treatment is definitive but it is rarely done nowadays with the variety of treatment options available. Some of the discussed modalities have been used in GAVE patients with another underlying disease rather than SSc; they are included as they may be tried in resistant SSc-GAVE patients. Symptomatic treatment includes iron supplementation and blood transfusion for cases with severe anemia, proton pump inhibitors may ameliorate the background chronic gastritis and minute erosions that commonly co-existed in biopsy reports.

Left untreated, Wilson's disease tends to become progressively worse and is eventually fatal. With early detection and treatment, most of those affected can live relatively normal lives. Liver and neurologic damage that occurs prior to treatment may improve, but it is often permanent.

Around 80 cases have been reported in the literature worldwide, hence this condition appears to be relatively rare. More than likely, sitosterolemia is significantly underdiagnosed and many patients are probably misdiagnosed with hyperlipidemia.