Acanthosis nigricans-muscle cramps-acral enlargement syndrome | |
---|---|
Other names | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement |
![]() | |
Specialty | Medical genetics |
Symptoms | Kidney enlargement, localized cutaneous hyperpigmentation, insulin resistance, muscle cramps, and polycystic ovary syndrome (in women) |
Usual onset | Birth |
Duration | Life-long |
Causes | Autosomal recessive inheritance |
Prevention | none |
Medication | Dilantin |
Prognosis | Good to Ok |
Frequency | very rare, only 2 cases known to medical literature |
Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans, insulin resistance, muscle cramps of severe intensity, and acral hypertrophy/enlargement. [1] [2] [3] Only 2 cases have been reported in medical literature.
It was first discovered when Jeffrey Flier and his colleagues described two siblings of the opposite sex with the symptoms mentioned above. (plus: large, chunky hands), the sister had virilized polycystic ovaries. [4] After being treated with dilantin, the cramps' severity lowered and the brother's insulin resistance also lowered. [5] [6] The inheritance pattern of this disorder is thought to be autosomal recessive. [7]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
Acanthosis nigricans-muscle cramps-acral enlargement syndrome | |
---|---|
Other names | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement |
![]() | |
Specialty | Medical genetics |
Symptoms | Kidney enlargement, localized cutaneous hyperpigmentation, insulin resistance, muscle cramps, and polycystic ovary syndrome (in women) |
Usual onset | Birth |
Duration | Life-long |
Causes | Autosomal recessive inheritance |
Prevention | none |
Medication | Dilantin |
Prognosis | Good to Ok |
Frequency | very rare, only 2 cases known to medical literature |
Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans, insulin resistance, muscle cramps of severe intensity, and acral hypertrophy/enlargement. [1] [2] [3] Only 2 cases have been reported in medical literature.
It was first discovered when Jeffrey Flier and his colleagues described two siblings of the opposite sex with the symptoms mentioned above. (plus: large, chunky hands), the sister had virilized polycystic ovaries. [4] After being treated with dilantin, the cramps' severity lowered and the brother's insulin resistance also lowered. [5] [6] The inheritance pattern of this disorder is thought to be autosomal recessive. [7]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)