Severe epidermolysis bullosa (EB): puberty in boys

Puberty is the time when your body starts developing to become an adult.

In girls, puberty usually starts somewhere between eight and 13 years old. In boys a little later – somewhere between nine and 14 years old.

Everyone’s body is different, so everyone will start puberty in their own time and will experience it slightly differently. Puberty takes place over a period of months, and you might notice some changes more than others.

People with severe EB can experience delays in puberty for various reasons – we explain this later in this leaflet.

The main changes you might notice when you reach puberty are:

• You grow taller and your body changes. You may notice your arms and legs getting longer, and that you need bigger shoes and clothes. You might notice your muscles growing too.
• Hair growing in new places. You might notice hair growing on your armpits, face (like a moustache or a beard), legs and around your pubic area – the area around your penis, and around and between the top of your legs. This hair may be soft at first and then become thicker.
• Becoming sweatier. You may notice you have a stronger body smell and feel the need to shower more frequently or use deodorant.
• Voice changes. Your voice may crack or squeak, before becoming deeper. This is due to changes in the voice box.
• Feeling more emotional. Hormonal changes can make boys you feel happy one minute but sad or angry the next. Some boys may desire more space or privacy.
• You may notice your penis and testicles getting bigger and changing.

Boys with severe EB can experience delayed puberty – when puberty starts later than usual. This can be for various reasons:

• Nutrition - Patients with EB have very high calorie requirements. If the body doesn’t get enough nutrients, it may delay puberty. Key nutrients in the diet contribute to bone health and overall growth. If these are missing, then puberty can be delayed.
• Low body weight - If body weight is affected by EB, this may delay puberty as the body doesn’t have enough stored energy which can affect growth hormones. These growth hormones are responsible for the changes that happen during puberty.
• Chronic wounds and inflammation - Severe EB can cause constant skin damage, ongoing inflammation and recurrent skin infections. Ongoing inflammation can signal to the body that it is not ready to start puberty.
• Hormone disruptions - The body’s hormone system controls puberty. Long term illness, stress or poor nutrition can interfere with:
  • The brain signals to start puberty.
  • Hormones made by the female hormone system (the HPA axis).
  • Overall growth hormone levels.

Puberty triggers hormones that help build bone strength and muscle mass. People with severe EV may already have weaker bone strength and smaller muscle mass. If puberty happens too late, girls with EB are more likely to have weaker bones which can cause fractures and ongoing issues with pain.

Puberty also isn’t just physical – it also supports:

• Confidence
• Independence
• Emotional regulation
• Social skills and identity

When you are around 12 or 13 years old, we will start checking how your body is developing. This may start sooner if you or your parents report early changes. We will do some checks and ask you some questions, so we can make recommendations for treatment if you need it. These can take place with your parent or carer present, or on your own – whichever you prefer.

These assessments include:

• Tanner stage assessment - During your regular EB appointment or home visit, the doctor or nurse will check your testicle and penis size and pubic hair development. This will be done respectfully and privately, and we will always make sure both you and your parent/carer consent to this.
• Growth measurements - The EB team will regularly check your height and weight and monitor your growth on a chart.
• Blood tests - You will have regular blood tests to check your hormone levels, thyroid function, nutrient levels and markers of inflammation. These tests will help us understand more about how your body is changing and if any support is needed.
• Routine x-rays - To help tell us how your bones look and whether bone growth is delayed.
• Nutrition and health - The dietitian will monitor your diet and calorie intake, weight gain, wound healing and inflammation to assess if you have started puberty.

Everyone with EB is different, even if they have the same type of EB. The EB team will discuss with you whether treatment might be helpful to you, and what options there are. These may or may not include:

• Referral to Endocrinology - Endocrinology focuses on the endocrine system, which regulates the hormones. Endocrinology may suggest hormone therapy such as estrogen or progesterone patches. These patches can be safe to use on EB skin if they are removed with a suitable medical adhesive remover (MAR).
• Treating anaemia or nutrient deficiencies with additional supplements - Correcting these may help the body ‘switch on’ to jumpstart puberty.
• Managing chronic inflammation - The EB team may look for areas of ongoing infection/inflammation that could be managed differently to reduce pain and stress in the body.

All young people wonder about puberty, and it’s important to talk to your parents or a trusted adult about any questions you have. The EB team are very happy to discuss any worries or fears about reaching puberty. Growing up can be stressful and new for everyone, but it’s important to remember puberty is natural and there is nothing to be embarrassed about.

Regardless of having EB, everyone develops at their own pace. Although having EB can naturally make puberty start later, by assessing how you’re developing we can help support you to be healthy and we can offer support or treatment early if it’s needed.

DEBRA is the national charity that supports individuals and families affected by EB.

They provide information, practical help and professional advice, and fund research into the condition. To find out more please visit debra.org.uk.