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My mysterious pigmentation
When I was born I had a beautiful skin without any pigment spots on my body my mother told me.
At the age of five multiple pigmented spots started to arise over my whole body (except soles of feet, palms of hands). When I was fifteen this process slowed down and I had large hyperpigmented parts of on my legs, arms and trunk and many spots in my face.
Till today I do not know the name of the pigmentation I have on my body which makes me so sad.
I've been looking on my own in Pubmed and there I found articles with pictures that looks a little the same. They call it partial unilateral lentiginosis (pul). But I have it on both sides, which is stated like extremely rare. Secondly it differs from pul as the pigmentation on my trunk is formed like a checker board, it's a mosaic which demarcates exactly around the midline.
Can anyone help me with finding the exact name of my mysterious pigmentation?
At the age of five multiple pigmented spots started to arise over my whole body (except soles of feet, palms of hands). When I was fifteen this process slowed down and I had large hyperpigmented parts of on my legs, arms and trunk and many spots in my face.
Till today I do not know the name of the pigmentation I have on my body which makes me so sad.
I've been looking on my own in Pubmed and there I found articles with pictures that looks a little the same. They call it partial unilateral lentiginosis (pul). But I have it on both sides, which is stated like extremely rare. Secondly it differs from pul as the pigmentation on my trunk is formed like a checker board, it's a mosaic which demarcates exactly around the midline.
Can anyone help me with finding the exact name of my mysterious pigmentation?
Dear Doctor Kaur,
I am very grateful to you for your help.
Actually I went a genetic counselor this year. After a short physical examination the genetic counselor said that I most likely have LEOPARD syndrome which is extremely rare. I had DNA and chromosome analysis of my blood and my ears, eyes and heart were thoroughly examined too. Results did no show any abnormalities in genes PTPN11, SOS1, chromosome was normal, and ears eyes and heart too.
After these results I asked my genetic counselor to send me to a dermatologist. After physical examination and going through a checklist of the LEOPARD syndrome the dermatologist also thought I have the LEOPARD syndrome (but she was already informed about the suggestion of the genetic counselor) and proposed to look further for gene abnormalities in my skin as she thought I do not have a full blown syndrome and there could be only a sign in my skin and not in my blood; she thought there would be no abnormalities in LEOAPRD syndrome important genes like PTPN11 and only in the affected skin; so she proposed to make two biopts, one from the skin withought lentigines and cafe au lait and as much away from a spot and one from a lentigine on a cafe au lait spot.
Since my first visit to the dermatologist in June this year no further examination took place. One month ago I have spoken to my genetic counselor if a biopt will take place of my skin and what will be the next step in the process of getting further insight in my health issues. After discussions with the dermatologist and a neurofibromatosis specialist in the USA the genetic counselor deciced to send me to the dermatologist to take biopts of my skin. They would like to examine fibroblasts and melanocytes. There seems to be a big problem with the melanocytes in that they cannot find a lab that is willing to examine the melanocytes for genetic counseling and only scientific investigation. This is why all is getting delayed and I am waiting for 6 months now on what they would like to do further. Meanwhile the genetic counselor decided to call for further DNA analysis of my blood in the RAF and BRAF gene pathways of which I do not have the results back yet.
Meanwhile I went to my general practictior to ask for a second bone scintigraphy. I asked this because 9 years ago a scan like this revealed some minors issues that could be related to metabolic disorder. This first scan of 2000 and further xray revealed 3 bone foci's with scelorotic borders in my left tibia with a diameter of 0.5cm each. Between my 9th and 12th year I have broken my (other) right tibia 4 times as there was one larger foci, eventually all started to inflame and it took 9 operations to get back to normal and walk again. Secondly to the foci, the first bone scan revealed strange costal cartilage of which could be caused by sceloritic calcifications (hypercalcification disorder/metabolic disease). The second bone scintifigraphy (with much better image resolution) revealed exactly the same issues in my left tibia and rib cartilage that are seems be calcified. The reason I asked my GP for a second bone scan was actually that I have major upper back problems that are painful around my ribs, my sternum is making sounds (plops) when I twist my body, and several physiotherapists said that my rib cage is extremely stiff especially around my 3th and 4th rib. Second bone scintifigraphy revealed some minor changes in calcifications, some ribs more some ribs less.
My GP send me to a specialist in bone diseases. There I got bone examination by blood and urine analysis. Nothing abnormal was found.
I am waiting to see if my genetic counselor sends me for taking biopts and further examinations. It looks like they would like to rule out neurofibromatosis, although they think this is not the issue.
LEOPARD syndrome was physicially diagnosed based on some health issues I have, namely a congenital block vertebrae C5-C6, glandular hypospadia, scapula alatae and most importantly the large café au lait spots with multiple lentigines that started to arise on my body at 5-6 year. According to Gorlin symptom checklist or something I would have LEOPARD syndrome, but as the PTPN11 gene was not abnormal they are still guessing and confused.
As I am waiting for 11 months now to get insight I wrote this message on medhelp to get some ideas by first posting a message with a picture of my leg to get ideas without noticing about the examinations that took place.
McCune Albright syndrome is a very interesting differential I found in your message. This syndrome seems to be accompanied with bone issues. I have read a little about it and there seems to be some similarities with the scelorotic foci and costal cartilage calcifications. I do not see multiple lentigines on the cafe-au-laut spots of people with McCune Albright syndrome but I have to read further into this.
I am very grateful to you for your help.
Actually I went a genetic counselor this year. After a short physical examination the genetic counselor said that I most likely have LEOPARD syndrome which is extremely rare. I had DNA and chromosome analysis of my blood and my ears, eyes and heart were thoroughly examined too. Results did no show any abnormalities in genes PTPN11, SOS1, chromosome was normal, and ears eyes and heart too.
After these results I asked my genetic counselor to send me to a dermatologist. After physical examination and going through a checklist of the LEOPARD syndrome the dermatologist also thought I have the LEOPARD syndrome (but she was already informed about the suggestion of the genetic counselor) and proposed to look further for gene abnormalities in my skin as she thought I do not have a full blown syndrome and there could be only a sign in my skin and not in my blood; she thought there would be no abnormalities in LEOAPRD syndrome important genes like PTPN11 and only in the affected skin; so she proposed to make two biopts, one from the skin withought lentigines and cafe au lait and as much away from a spot and one from a lentigine on a cafe au lait spot.
Since my first visit to the dermatologist in June this year no further examination took place. One month ago I have spoken to my genetic counselor if a biopt will take place of my skin and what will be the next step in the process of getting further insight in my health issues. After discussions with the dermatologist and a neurofibromatosis specialist in the USA the genetic counselor deciced to send me to the dermatologist to take biopts of my skin. They would like to examine fibroblasts and melanocytes. There seems to be a big problem with the melanocytes in that they cannot find a lab that is willing to examine the melanocytes for genetic counseling and only scientific investigation. This is why all is getting delayed and I am waiting for 6 months now on what they would like to do further. Meanwhile the genetic counselor decided to call for further DNA analysis of my blood in the RAF and BRAF gene pathways of which I do not have the results back yet.
Meanwhile I went to my general practictior to ask for a second bone scintigraphy. I asked this because 9 years ago a scan like this revealed some minors issues that could be related to metabolic disorder. This first scan of 2000 and further xray revealed 3 bone foci's with scelorotic borders in my left tibia with a diameter of 0.5cm each. Between my 9th and 12th year I have broken my (other) right tibia 4 times as there was one larger foci, eventually all started to inflame and it took 9 operations to get back to normal and walk again. Secondly to the foci, the first bone scan revealed strange costal cartilage of which could be caused by sceloritic calcifications (hypercalcification disorder/metabolic disease). The second bone scintifigraphy (with much better image resolution) revealed exactly the same issues in my left tibia and rib cartilage that are seems be calcified. The reason I asked my GP for a second bone scan was actually that I have major upper back problems that are painful around my ribs, my sternum is making sounds (plops) when I twist my body, and several physiotherapists said that my rib cage is extremely stiff especially around my 3th and 4th rib. Second bone scintifigraphy revealed some minor changes in calcifications, some ribs more some ribs less.
My GP send me to a specialist in bone diseases. There I got bone examination by blood and urine analysis. Nothing abnormal was found.
I am waiting to see if my genetic counselor sends me for taking biopts and further examinations. It looks like they would like to rule out neurofibromatosis, although they think this is not the issue.
LEOPARD syndrome was physicially diagnosed based on some health issues I have, namely a congenital block vertebrae C5-C6, glandular hypospadia, scapula alatae and most importantly the large café au lait spots with multiple lentigines that started to arise on my body at 5-6 year. According to Gorlin symptom checklist or something I would have LEOPARD syndrome, but as the PTPN11 gene was not abnormal they are still guessing and confused.
As I am waiting for 11 months now to get insight I wrote this message on medhelp to get some ideas by first posting a message with a picture of my leg to get ideas without noticing about the examinations that took place.
McCune Albright syndrome is a very interesting differential I found in your message. This syndrome seems to be accompanied with bone issues. I have read a little about it and there seems to be some similarities with the scelorotic foci and costal cartilage calcifications. I do not see multiple lentigines on the cafe-au-laut spots of people with McCune Albright syndrome but I have to read further into this.
MEDICAL PROFESSIONAL
Hello,
What you seem to be having is called Leopard syndrome. It starts in early childhood and presents with multiple lentigenes all over the body. The other differentials are Albright syndrome, neurofibromatosis and lentigo. Peutz-Jeghers syndrome should also be ruled out. My sincere advice is to consult a dermatologist and get these possibilities evaluated.
It is very difficult to precisely confirm a diagnosis without examination and investigations and the answer is based on the medical information provided. For exact diagnosis, you are requested to consult your dermatologist. I sincerely hope that helps. Take care and please do keep me posted on how you are doing.
What you seem to be having is called Leopard syndrome. It starts in early childhood and presents with multiple lentigenes all over the body. The other differentials are Albright syndrome, neurofibromatosis and lentigo. Peutz-Jeghers syndrome should also be ruled out. My sincere advice is to consult a dermatologist and get these possibilities evaluated.
It is very difficult to precisely confirm a diagnosis without examination and investigations and the answer is based on the medical information provided. For exact diagnosis, you are requested to consult your dermatologist. I sincerely hope that helps. Take care and please do keep me posted on how you are doing.
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