2025 – PAGE 271 – GENETICS & INHERITED DISEASES

EHLERS-DANLOS SYNDROME

Ehlers-Danlos syndrome has many similarities to Marfans Syndrome, including joint hypermobility, possible mitral valve prolapse (MVP), and aortic dissection. Skin laxity (loose skin) is a key differentiating feature. Other unique features include contractures, skin nodules, easy bruisability and poor wound healing. Also, after getting wounded, patients form “cigarette paper” scars. (Skin, skin, skin.)

IMAGE: www.pbrlinks.com/EHLERSDANLOS1
IMAGE: www.pbrlinks.com/EHLERSDANLOS2
IMAGE: www.pbrlinks.com/EHLERSDANLOS3

MNEMONICS: Rename it as “That feller’s daaamn loose!” = “That fella is damn loose,” said with a southern drawl). Also, if you get confused between Marfans and this one, remind yourself that Michael Phelps doesn’t have any skin findings.

(DOUBLE TAKE) HOMOCYSTINURIA

Homocystinuria is an aminoacidopathy with physical features that are Marfanoid, but this includes COGNITIVE DEFICITS and neurologic deficits. Also, as in Marfan Syndrome, there can be displacement of the lens. However, the displacement is DOWNWARDS or POSTERIORLY. These patients are hypercoagulable, so there may be a history of DVT. It can be diagnosed by noting high levels of homocysteine in the urine. Treat with pyridoxine or a diet high in cysteine and low in methionine.

MNEMONIC: (Image of Homo erectus) www.pbrlinks.com/HOMOCYSTEINURIA1

MNEMONIC: Imagine a proud and TALL HOMO erectus next to a fire. He suddenly develops CLOTS in his BRAIN that cause him to FALL DOWN face-forward so that he injures his EYES. He now has NEUROLOGIC DEFICITS because of the CLOTS in his brain, and his ocular lens is DOWNWARDLY displaced.

MNEMONIC: This sounds intuitive, but how do you treat someone who is losing an amino acid in their urine? Give them more of it! Treat with cysteine.

 (DOUBLE TAKE) TURNER SYNDROME (AKA TURNERS)

Turner Syndrome (AKA Turners) has a high association with bicuspid aortic valve (most common) and aortic coarctation. Look for a WEBBED NECK (also called CYSTIC HYGROMA). The patient may have a history of having only breast buds, but they do NOT have breasts. There may be short stature, pedal edema, wide spaced nipples, and short 4th and 5th metacarpals, and may have either scant or no pubic hair. Primary amenorrhea occurs because of streak ovaries and ovarian failure. They DO have a uterus. High FSH always means ovarian failure (top two reasons are Turners and autoimmune ovarian failure) = HYPERGONADOTROPIC HYPOGONADISM. The patient may also have renal anomalies including a possible HORSESHOE kidney. Diagnose by karyotype.

IMAGE: www.pbrlinks.com/TURNER1
IMAGE: www.pbrlinks.com/TURNER2
IMAGE: www.pbrlinks.com/TURNER3

MNEMONIC: Association between XO and coarctation of the Aorta: “XO kind of looks like AO (abbreviation for aorta), doesn’t it?”

MNEMONIC: Coarctation of the Aorta and Horseshoe Kidney = In case you didn’t know, Tina TURNER was married to a man who was reportedly abusive. His name was Ike. Now imagine Tina TURNER’S hand thrusting through Ike’s chest and squeezing his AO. He TURNS and hits her in the head with a HORSESHOE!” KEY: Squeezing his AO = Coarctation of the Aorta. Horseshoe trauma = Horseshoe Kidney.

MNEMONIC IMAGE: www.pbrlinks.com/TURNER4