Cutaneous T-cell Lymphoma (CTCL)

Cutaneous T-cell lymphoma (CTCL) is a rare form of non-Hodgkin’s lymphoma, a type of blood cancer, which occurs when the body makes too many white blood cells (specifically T-cells). 

T-cells are a part of your immune system and help with the body to fight off diseases or infections. Some T-cells perform their immune function within skin and, in the case of CTCL, cancerous T-cells build up in the skin organ and can often look like a rash or raised plaque. 

It is important to understand that CTCL is a blood cancer, even though it first affects the skin. 

DIFFERENT TYPES OF CTCL  

There are several types of CTCL that can look different on the skin, affect different parts of the body and progress at different speeds. The most well-known types are called mycosis fungoides and Sézary syndrome. 

Mycosis fungoides is generally considered to follow a slow course of disease progression. It is the most common form of CTCL, accounting for around 60% of cases.

Sézary syndrome is a more aggressive form of CTCL, differing from mycosis fungoides due to total involvement of the skin organ (erythroderma) and the greater number of cancerous T-cells detected in the blood.

WHAT CAUSES CTCL? 

Experts do not know what causes CTCL. However, scientific studies have shown that it is not contagious (meaning one cannot catch it from other people or pass it on themselves), and it is unlikely to be genetic. 

GETTING A CTCL DIAGNOSIS

The first step in CTCL diagnosis is a skin biopsy; however, diagnosis is not always straightforward, even for a specialist.

Given the rarity of the condition and the difficulty in its identification, input from clinicians across a number of specialties (e.g. dermatology, haematology, and pathology) is often required.

Due to skin lesions in CTCL appearing similar to those in more common conditions such as eczema and psoriasis, receiving a firm CTCL diagnosis takes on average around 3 years; for some this will be quicker and for some may take even longer.

LIVING WITH CTCL 

Living with CTCL can affect a person’s emotional wellbeing because of the impact the disease has on the way they look and feel, as well as their daily life. Learn more about life with CTCL here.

There are several organisations for people who have CTCL or other rare cancers that are able to offer practical advice on daily living and support on ways to cope with their feelings.

Click here to visit the Cutaneous Lymphoma Foundation, a patient advocacy organisation that supports people living with CTCL across the globe.

X-linked Hypophosphataemia (XLH)

X-linked hypophosphataemia, or XLH, is a rare, inherited musculoskeletal disorder caused by a lack of phosphate.  

Throughout our lives, our bodies need phosphate to grow and develop properly. Phosphate is required for healthy bones, teeth, blood and muscle, and is involved in providing our bodies with energy. Most of the phosphate from our diet ends up in our teeth and bones where, alongside calcium, it is essential for lifelong bone health. 

XLH is a lifelong condition that affects children and adults differently, with symptoms that vary from person to person. These can include pseudo fractures, osteoarthritis, joint and bone pain, and dental problems. 

WHAT CAUSES XLH?  

XLH is a genetic condition that occurs due to a mutation on an X chromosome. This mutation creates an excess of fibroblast growth factor 23 (FGF23), which causes a person’s kidneys to let too much phosphate pass into their urine. This ‘phosphate wasting’ leads to low levels of phosphorus in the blood (also known as hypophosphataemia). 

Most people with XLH inherit the X-linked mutation from a parent. However, one in three people with XLH are born with the condition despite there being no family history. This is called 'spontaneous XLH'. It’s not yet understood why this happens. 

DIAGNOSING XLH 

XLH is normally diagnosed at a young age, around the time we first begin to walk. Common signs are short stature, bowed legs or knock-knees, and wrists or knees that appear larger than normal.  

Due to it being such a rare condition, XLH can be mistaken for other skeletal diseases including nutritional rickets, which is caused by not eating enough vitamin D-rich foods. 

LIVING WITH XLH

XLH is a lifelong disease in which the symptoms and their severity may change over time. However, there are many ways that people with XLH can live full and active lives.

And, despite the rarity of XLH, there are many specialist healthcare professionals and support groups who can provide information, help and advice.

Click here to visit the International XLH Alliance, an international alliance of patient groups for people affected by XLH and related disorders.

Tumour-induced Osteomalacia (TIO)

Tumour-induced osteomalacia, or TIO, is a rare, acquired disorder of phosphate and vitamin D metabolism caused by typically small endocrine tumours.

TIO is characterised by bone pain, fatigue, muscle weakness, gait disturbance and multiple fractures, which may lead to long-term disability and prolonged morbidity.

WHAT CAUSES TIO?

In TIO, small endocrine tumours secrete fibroblast growth factor 23 (FGF23), which causes a person’s kidneys to let too much phosphate pass into their urine. This ‘phosphate wasting’ leads to low levels of phosphate in the blood (also known as hypophosphataemia), which impacts bone metabolism among others.

DIAGNOSING TIO

The signs and symptoms of TIO are not specific for this condition and, consequently, >95% of cases may be misdiagnosed and treated incorrectly. People with TIO can often wait several years to receive an accurate diagnosis.

Metachromatic Leukodystrophy (MLD)

Metachromatic leukodystrophy (MLD) is a rare and life-threatening inherited condition of the body’s metabolic system. 

WHAT CAUSES MLD? 

MLD is caused by a mutation in the ARSA gene that results in the accumulation of fats, called sulfatides, in the brain and other areas of the body, including the liver, the gallbladder and kidneys. 

Over time, the nervous system is damaged, and children with MLD experience neurological problems such as motor, behavioural and cognitive regression, severe spasticity and seizures, and find it increasingly difficult to move, talk, swallow, eat and see. 

THE BURDEN OF MLD 

MLD is estimated to occur in approximately one in every 100,000 live births. An estimated 50% of children with the most aggressive form of MLD die within five years of disease onset if untreated.