Posts tagged museum vrolik

moshita:

Museum Vrolik

Museum Vrolik is one of the best non-US/UK medical museums around. The “open” collections barely comprise three medium-sized rooms, but those rooms are STUFFED with specimens, and researchers can gain access to an entire storeroom full of other specimens.

All of these are from genuine cadavers - no models or sculpting here.

Harlequin Ichthyosis at Museum Vrolik

moshita

biomedicalephemera: Harlequin Ichthyosis Comprising less than 0.001% of the cases of ichthyosis, Harlequin-type ichthyosis was uniformly fatal in the past. It is an autosomal recessive condition, with both parents having to carry the same mutation of the gene ABCA12. Historically, it was known to be a disease found in first-degree and second-degree consanguineous unions (children from siblings or first cousins), but today it is not one of the major inbreeding-related or Founder effect syndromes. Harlequin infants are born with thick, plate-like keratin “armor”, often accompanied by ectropion (out-turned eyelids - that’s what causes the blood-like eye appearance). Historically, they would generally die before 14 days of age, due to dehydration, overwhelming infection/sepsis, breathing problems (from the keratin plates restricting inhalation), or related problems. None were known to survive beyond 5 months. These days, some people who are affected by Harlequin-type ichthyosis manage to survive infancy, though the percentage is still barely above half. The high retention rate and cracking of the plates of keratinous cells leaves the dermis vulnerable to disease and dehydration, but frequent application of Isoretinoin can allow the skin to shed keratin layers faster than it produces them. This allows for a higher level of flexibility and protection (because of no deep fissures in the skin). Currently, there are multiple people who have Harlequin-type ichthyosis treated by Isoretinioin and therapeutic baths who have survived long beyond anything ever seen in the past. Despite the inconvenience their condition poses, some of them present a pretty darn inspirational way of living: Nusrit “Nelly” Shaheen is 28 (born in 1984) and studied at Hereward College in the UK. She lives a very active lifestyle, and is the oldest living survivor of Harelequin-type ichthyosis. Ryan Gonzalez is 25, and lives in the United States, where he participates in triathlons and swimming competitions. He uses a different regimen from Nelly in his treatment, where he relies almost exclusively on Isoretinoin ointment. Both require a huge caloric intake to match their skins turnover rate, though. Today, there are 56 other known survivors of Harlequin-type ichthyosis that are beyond 2 years of age. It may seem like a tiny number, but a 53% survival rate at 2-years-old is certainly better than zero percent! Hopefully the future will hold new therapies for all of the ichthyosis syndromes. Image: Harlequin Fetus from 1880 at Museum Vrolik, in Amsterdam, Holland. Photograph by Zzzak.

biomedicalephemera:

Harlequin Ichthyosis

Comprising less than 0.001% of the cases of ichthyosis, Harlequin-type ichthyosis was uniformly fatal in the past. It is an autosomal recessive condition, with both parents having to carry the same mutation of the gene ABCA12. Historically, it was known to be a disease found in first-degree and second-degree consanguineous unions (children from siblings or first cousins), but today it is not one of the major inbreeding-related or Founder effect syndromes.

Harlequin infants are born with thick, plate-like keratin “armor”, often accompanied by ectropion (out-turned eyelids - that’s what causes the blood-like eye appearance). Historically, they would generally die before 14 days of age, due to dehydration, overwhelming infection/sepsis, breathing problems (from the keratin plates restricting inhalation), or related problems. None were known to survive beyond 5 months. These days, some people who are affected by Harlequin-type ichthyosis manage to survive infancy, though the percentage is still barely above half.

The high retention rate and cracking of the plates of keratinous cells leaves the dermis vulnerable to disease and dehydration, but frequent application of Isoretinoin can allow the skin to shed keratin layers faster than it produces them. This allows for a higher level of flexibility and protection (because of no deep fissures in the skin). Currently, there are multiple people who have Harlequin-type ichthyosis treated by Isoretinioin and therapeutic baths who have survived long beyond anything ever seen in the past. Despite the inconvenience their condition poses, some of them present a pretty darn inspirational way of living:

Nusrit “Nelly” Shaheen is 28 (born in 1984) and studied at Hereward College in the UK. She lives a very active lifestyle, and is the oldest living survivor of Harelequin-type ichthyosis.

Ryan Gonzalez is 25, and lives in the United States, where he participates in triathlons and swimming competitions. He uses a different regimen from Nelly in his treatment, where he relies almost exclusively on Isoretinoin ointment. Both require a huge caloric intake to match their skins turnover rate, though.

Today, there are 56 other known survivors of Harlequin-type ichthyosis that are beyond 2 years of age. It may seem like a tiny number, but a 53% survival rate at 2-years-old is certainly better than zero percent! Hopefully the future will hold new therapies for all of the ichthyosis syndromes.

Image:

Harlequin Fetus from 1880 at Museum Vrolik, in Amsterdam, Holland. Photograph by Zzzak.

Harlequin Ichthyosis Comprising less than 0.001% of the cases of ichthyosis, Harlequin-type ichthyosis was uniformly fatal in the past. It is an autosomal recessive condition, with both parents having to carry the same mutation of the gene ABCA12. Historically, it was known to be a disease found in first-degree and second-degree consanguineous unions (children from siblings or first cousins), but today it is not one of the major inbreeding-related or Founder effect syndromes. Harlequin infants are born with thick, plate-like keratin “armor”, often accompanied by ectropion (out-turned eyelids - that’s what causes the blood-like eye appearance). Historically, they would generally die before 14 days of age, due to dehydration, overwhelming infection/sepsis, breathing problems (from the keratin plates restricting inhalation), or related problems. None were known to survive beyond 5 months. These days, some people who are affected by Harlequin-type ichthyosis manage to survive infancy, though the percentage is still barely above half. The high retention rate and cracking of the plates of keratinous cells leaves the dermis vulnerable to disease and dehydration, but frequent application of Isoretinoin can allow the skin to shed keratin layers faster than it produces them. This allows for a higher level of flexibility and protection (because of no deep fissures in the skin). Currently, there are multiple people who have Harlequin-type ichthyosis treated by Isoretinioin and therapeutic baths who have survived long beyond anything ever seen in the past. Despite the inconvenience their condition poses, some of them present a pretty darn inspirational way of living: Nusrit “Nelly” Shaheen is 28 (born in 1984) and studied at Hereward College in the UK. She lives a very active lifestyle, and is the oldest living survivor of Harelequin-type ichthyosis. Ryan Gonzalez is 25, and lives in the United States, where he participates in triathlons and swimming competitions. He uses a different regimen from Nelly in his treatment, where he relies almost exclusively on Isoretinoin ointment. Both require a huge caloric intake to match their skins turnover rate, though. Today, there are 56 other known survivors of Harlequin-type ichthyosis that are beyond 2 years of age. It may seem like a tiny number, but a 53% survival rate at 2-years-old is certainly better than zero percent! Hopefully the future will hold new therapies for all of the ichthyosis syndromes. Image: Harlequin Fetus from 1880 at Museum Vrolik, in Amsterdam, Holland. Photograph by Zzzak.

Harlequin Ichthyosis

Comprising less than 0.001% of the cases of ichthyosis, Harlequin-type ichthyosis was uniformly fatal in the past. It is an autosomal recessive condition, with both parents having to carry the same mutation of the gene ABCA12. Historically, it was known to be a disease found in first-degree and second-degree consanguineous unions (children from siblings or first cousins), but today it is not one of the major inbreeding-related or Founder effect syndromes.

Harlequin infants are born with thick, plate-like keratin “armor”, often accompanied by ectropion (out-turned eyelids - that’s what causes the blood-like eye appearance). Historically, they would generally die before 14 days of age, due to dehydration, overwhelming infection/sepsis, breathing problems (from the keratin plates restricting inhalation), or related problems. None were known to survive beyond 5 months. These days, some people who are affected by Harlequin-type ichthyosis manage to survive infancy, though the percentage is still barely above half.

The high retention rate and cracking of the plates of keratinous cells leaves the dermis vulnerable to disease and dehydration, but frequent application of Isoretinoin can allow the skin to shed keratin layers faster than it produces them. This allows for a higher level of flexibility and protection (because of no deep fissures in the skin). Currently, there are multiple people who have Harlequin-type ichthyosis treated by Isoretinioin and therapeutic baths who have survived long beyond anything ever seen in the past. Despite the inconvenience their condition poses, some of them present a pretty darn inspirational way of living:

Nusrit “Nelly” Shaheen is 28 (born in 1984) and studied at Hereward College in the UK. She lives a very active lifestyle, and is the oldest living survivor of Harelequin-type ichthyosis.

Ryan Gonzalez is 25, and lives in the United States, where he participates in triathlons and swimming competitions. He uses a different regimen from Nelly in his treatment, where he relies almost exclusively on Isoretinoin ointment. Both require a huge caloric intake to match their skins turnover rate, though.

Today, there are 56 other known survivors of Harlequin-type ichthyosis that are beyond 2 years of age. It may seem like a tiny number, but a 53% survival rate at 2-years-old is certainly better than zero percent! Hopefully the future will hold new therapies for all of the ichthyosis syndromes.

Image:

Harlequin Fetus from 1880 at Museum Vrolik, in Amsterdam, Holland. Photograph by Zzzak.

Congenital Ichthyosis Many people have seen images of “Harlequin ichthyosis” or “Harlequin fetus” before, what with this being the internet, and the internet having a taste for what it sees as morbid. However, ichthyosis takes many forms other than that most severe condition, and is quite interesting on a genetic and cellular level. Almost all forms of ichthyosis are congenital (inherited), though the mechanism of inheritance varies between forms - autosomal dominant, autosomal recessive, and X-linked inheritance patterns have all been found. There are also many different presentations of the conditions, ranging from what looks like severe dry skin, to spiny scales covering the body, to Harlequin-type ichthyosis. Historically, there was very little one could do to treat the condition, and many infants and children died from many forms other than just Harlequin-type, which is currently the only presentation that still has a significant mortality rate. In all forms of ichthyosis, the keratin in the skin is disordered. Keratin is the group of proteins that form hair and nails, and make our skin tough enough to survive in the world. Without it, our skin would be incredibly easy to perforate, and we would have no water-retention abilities - all of our fluids that are needed to nourish the sub-dermal tissues would just evaporate as soon as they reached the part of the body exposed to the air. In places like your feet, or on calluses you might form from hard work, the keratin is thicker, and tougher to penetrate than the rest of the skin. However, the thicker keratin also leads to a significant loss of flexibility. In the palms and feet, that’s usually not a problem, but if you have that sort of excess keratin building up on other parts of the body, or building up for no reason? That’s called hyperkeratinosis, and in many of its manifestations (such as several forms of ichthyosis), it can be seriously debilitating without treatment. Skin Diseases of Children. George Henry Fox, 1898.

Congenital Ichthyosis

Many people have seen images of “Harlequin ichthyosis” or “Harlequin fetus” before, what with this being the internet, and the internet having a taste for what it sees as morbid. However, ichthyosis takes many forms other than that most severe condition, and is quite interesting on a genetic and cellular level.

Almost all forms of ichthyosis are congenital (inherited), though the mechanism of inheritance varies between forms - autosomal dominant, autosomal recessive, and X-linked inheritance patterns have all been found. There are also many different presentations of the conditions, ranging from what looks like severe dry skin, to spiny scales covering the body, to Harlequin-type ichthyosis. Historically, there was very little one could do to treat the condition, and many infants and children died from many forms other than just Harlequin-type, which is currently the only presentation that still has a significant mortality rate.

In all forms of ichthyosis, the keratin in the skin is disordered. Keratin is the group of proteins that form hair and nails, and make our skin tough enough to survive in the world. Without it, our skin would be incredibly easy to perforate, and we would have no water-retention abilities - all of our fluids that are needed to nourish the sub-dermal tissues would just evaporate as soon as they reached the part of the body exposed to the air. In places like your feet, or on calluses you might form from hard work, the keratin is thicker, and tougher to penetrate than the rest of the skin. However, the thicker keratin also leads to a significant loss of flexibility. In the palms and feet, that’s usually not a problem, but if you have that sort of excess keratin building up on other parts of the body, or building up for no reason? That’s called hyperkeratinosis, and in many of its manifestations (such as several forms of ichthyosis), it can be seriously debilitating without treatment.

Skin Diseases of Children. George Henry Fox, 1898.