Posts tagged genetic disorder

70-year-old Burmese Albino Man, Maung Shwe Maung.
Watercolor painting from the mission to the Court of Ava by Major Phayre, in 1855.
Maung Shwe Maung was the child of two non-albino parents, and his children were not albino. However, one of his grandchildren had very pale skin, though he was not thought to be albino. This is typical of albinism - as all known forms of human albinism are recessive, it tends to at the very least skip generations.
There are two distinct forms of albinism - oculocutaneous, and ocular. While there are multiple alleles that can lead to albinism of both the eyes and skin (oculocutaneous), the vast majority of albinism restricted to the eyes (ocular) is caused by one recessive allele on the X chromosome. Since males only have one X-chromosome, they’re much more likely to develop this condition than females.
A Series of Views in Burmah taken during Major Phayre’s Mission to the Court of Ava. Colesworthy Grant, 1855.

70-year-old Burmese Albino Man, Maung Shwe Maung.

Watercolor painting from the mission to the Court of Ava by Major Phayre, in 1855.

Maung Shwe Maung was the child of two non-albino parents, and his children were not albino. However, one of his grandchildren had very pale skin, though he was not thought to be albino. This is typical of albinism - as all known forms of human albinism are recessive, it tends to at the very least skip generations.

There are two distinct forms of albinism - oculocutaneous, and ocular. While there are multiple alleles that can lead to albinism of both the eyes and skin (oculocutaneous), the vast majority of albinism restricted to the eyes (ocular) is caused by one recessive allele on the X chromosome. Since males only have one X-chromosome, they’re much more likely to develop this condition than females.

A Series of Views in Burmah taken during Major Phayre’s Mission to the Court of Ava. Colesworthy Grant, 1855.

Michel Bur - Case Study #2 of Dr. von Recklinghausen - Neurofibromatosis 1
Though some characteristics of the disease were already known (namely its heritable nature and its vastly variable degrees of severity) Frederich Daniel von Recklinghausen wrote the first work on the true etiology of NF, which is why it’s still referred to in some textbooks as “[von] Recklinghausen disease”.
He noted that the soft-tissue tumors easily visible on the skin arose from the nerve sheaths, and the internal tumors often found on the optic nerves and gastrointestinal system had the same origin. Recklinghausen also recorded several of the diagnostic signs that were unique to (or very rare outside of) neurofibromatosis, such as Lisch nodules on the iris of the eye.
Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Frederich Daniel von Recklinghausen, 1882.

Michel Bur - Case Study #2 of Dr. von Recklinghausen - Neurofibromatosis 1

Though some characteristics of the disease were already known (namely its heritable nature and its vastly variable degrees of severity) Frederich Daniel von Recklinghausen wrote the first work on the true etiology of NF, which is why it’s still referred to in some textbooks as “[von] Recklinghausen disease”.

He noted that the soft-tissue tumors easily visible on the skin arose from the nerve sheaths, and the internal tumors often found on the optic nerves and gastrointestinal system had the same origin. Recklinghausen also recorded several of the diagnostic signs that were unique to (or very rare outside of) neurofibromatosis, such as Lisch nodules on the iris of the eye.

Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Frederich Daniel von Recklinghausen, 1882.

Molluscum fibrosum (Neurofibromatosis 1)
neu·ro·fi·bro·ma·to·sis
n.
A genetic disease characterized by multiple neurofibromas and pigmented spots on the skin, sometimes accompanied by bone deformity and a predisposition to cancers, especially of the brain. Also calledmultiple neurofibroma, neuromatosis, Recklinghausen’s disease, von Recklinghausen’s disease.
Image from: An Introduction to Dermatology. Norman Purvis Walker, 1905.
Definition: American Heritage Medical Dictionary 2004.

Molluscum fibrosum (Neurofibromatosis 1)

neu·ro·fi·bro·ma·to·sis

n.

A genetic disease characterized by multiple neurofibromas and pigmented spots on the skin, sometimes accompanied by bone deformity and a predisposition to cancers, especially of the brain. Also calledmultiple neurofibromaneuromatosisRecklinghausen’s diseasevon Recklinghausen’s disease.

Image from: An Introduction to Dermatology. Norman Purvis Walker, 1905.

Definition: American Heritage Medical Dictionary 2004.

Tuberous Sclerosis
Case from German physician Richard Kothe, 1903
Tuberous sclerosis is not to be confused with tuberculosis. It’s an autosomal dominant, multi-system disorder, but almost 2/3 of cases are sporadic mutations. The periungual fibromas illustrated here are one of the key diagnostic criteria for the Tuberous Sclerosis Complex.
Illustration from Wikimedia Commons

Tuberous Sclerosis

Case from German physician Richard Kothe, 1903

Tuberous sclerosis is not to be confused with tuberculosis. It’s an autosomal dominant, multi-system disorder, but almost 2/3 of cases are sporadic mutations. The periungual fibromas illustrated here are one of the key diagnostic criteria for the Tuberous Sclerosis Complex.

Illustration from Wikimedia Commons

The Wonderful Albino family from Barnum’s Museum

The Wonderful Albino family from Barnum’s Museum