MASS syndrome
Overview
A genetic syndrome that is similar the Marfan syndrome but does not involve lens dislocation. It is a connective tissue disorder that involves the skeleton, skin, aorta and mitral valve.
Symptoms
* Long limbs * Deformed ribcage * Skin stretch marks * Mitral valve prolapse * Mild aortic root dilatation
Causes
* Postmenarche/premenopause –Ovarian: Follicular and corpus luteum cysts (most common), endometrioma, polycystic ovarian syndrome, neoplasms (benign or malignant) –Infectious: Tubo-ovarian abscess (secondary to PID), hydrosalpinx –Pregnancy: Uterine, ectopic, or molar –Leiomyomas (fibroids) –Retroperitoneal tumors –Constipation * Postmenopause (increased risk of malignant neoplasms) –Ovarian fibromas –Ovarian cysts –Leiomyomas (fibroids) –Diverticular abscesses –Enlarged bladder –Hernia (femoral or inguinal) –Primary ovarian carcinoma –Metastatic disease from uterus, breast, or GI tract –Colorectal cancer * Newborns/children –Functional ovarian cysts –Germ cell tumor: Dermoid (benign cystic teratoma), dysgerminomas –Wilms’ tumor –Lymphoma * Sacral promontory can occasionally be confused with a pelvic mass by inexperienced clinicians * Less common etiologies (“zebras”) include ovarian torsion, leiomyoma torsion, congenital obstructive genital lesion (e.g., imperforate hymen, blinded uterine horn), bicornuate uterus, pelvic kidney, and cervical cancer * Males –Lymphoma –Colorectal cancer –Diverticular abscesses –Metastatic disease from colorectal cancer –Bladder distension (often secondary to BPH) –Hernia (femoral or inguinal) –Retroperitoneal tumors –Constipation
Diagnosis
1. Is it unilateral or bilateral? Unilateral masses are usually enlarged lymph nodes due to some infectious process in the extremity served by the axillary nodes or the breast served by the axillary nodes. The unilateral mass may also be a tuberculous abscess, lipoma, a sebaceous cyst, metastatic carcinoma, or Hodgkin's disease. Rarely, it is due to an aneurysm. When the masses are bilateral, one should consider a systemic infection, leukemia, or advanced lymphoma. Rheumatoid arthritis and tuberculosis may be associated with bilateral axillary nodes. 2. Is it painful or painless? A painful axillary mass is usually an acute abscess or an acute inflammation of the lymph node due to infection on the extremity or breast supplied by the lymph node or hidradenitis suppurativa. 3. Is there a discharge from the mass? A discharge from an axillary mass usually means hidradenitis suppurativa. 4. Is there fever? Fever with a bilateral axillary mass would suggest an acute systemic infection or infectious mononucleosis. Fever with a unilateral axillary mass would suggest that there is mastitis, a breast abscess, or lymphangitis of the extremity supplied by the axillary lymph nodes. 5. If the mass is unilateral, are there signs of an infection on the extremity or breast supplied by the axillary nodes? In tularemia there will be a bubo on the extremity supplied by the axillary nodes, and in lymphadenitis there should be an infectious lesion on the extremity involved. If the lymphadenitis is due to mastitis, there should be a breast discharge or extreme tenderness and enlargement of the breast. 6. Does the mass pulsate? A pulsatile mass in the axilla is usually an aneurysm.
Treatment
* Treat the underlying etiology * Ovarian masses –Premenarchal: Immediate gynecologic referral because of high malignancy potential –Premenopausal: If simple ovarian cyst 3 cm, symptomatic, or solid * Leiomyoma –Hypoestrogenic medications (e.g., Depo-Provera, leuprolide) –Minimally invasive procedures: Hysteroscopic laser myomectomy, uterine artery embolization –Surgical: Myomectomy versus hysterectomy