Type:
Educational Exhibit
Authors:
P. L. Moyle, R. Sinnatamby; Cambridge/UK
DOI:
10.1594/ecr2010/C-0473
Imaging findings OR Procedure details
I Rosai Dorfman Syndrome
(Sinus Histiocytosis with Massive Lymphadenopathy)
- Commonly presents as massive painless, bilateral cervical lymph node enlargement with fevers.
- Very rare: less than 1000 reported cases.
- Extra-nodal disease occurs in up to 25%, including central nervous system, eyes, skin, head and neck and .........breasts.
- Cause unknown; usually there is spontaneous regression of symptoms over time.
A 55 year old woman with known Rosai Dorfman disease presented with a painless mass in the upper inner quadrant of her left breast. Mammography (figure 1) and ultrasound (figure 2) confirmed a 10cm irregular mass; T1-W MRI (Figure 3) demonstrated an irregular mass with benign enhancement kinetics. Core biopsy confirmed extra-nodal Rosai Dorfman disease.
Professor Ronald F Dorfman and Dr Juan Rosai
Fig.: Professor Ronald F. Dorfman
References: 1994-2010 Ole Daniel Enersen.
- Professor Ronald F. Dorman a South African pathologist came across African boys with a 'bull-neck' appearance due to massive lymphadenopathy.
- Collaborating with Dr Juan Rosai an Argentine- American pathologist, they described 'Sinus histiocytosis with massive lymphadenopathy.
Fig.: Dr Juan Rosai.
References: 1994-2010 Ole Daniel Enersen.
II Von Recklinghausen disease
Neurofibromatosis type I (NF-1)
- Characterised by multiple benign neurofibromas and cafe-au-lait spots but CNS, peripheral nerve, skeletal, dermatological and cognitive involvement can occur.
Screening mammograms in a 50 year old woman demonstrated multiple well defined bilateral masses (figure 4 and figure 5).These corresponded to her multiple cutaneous neurofibromata. She also exhibited several café au lait spots typical of Von Recklinghausen disease.
Professor Friedrich Daniel von Recklinghausen (1833-1910)
Fig.: Professor Friedrich Daniel von Recklinghausen.
References: 1994-2010 Ole Daniel Enersen.
- A German pathologist who studied under Virchow.
- He also coined the term 'haemochromatosis', first describing the link between the disease and iron accumulation in tissues.
- opposed Robert Koch arguing, to claim that because TB lesions contained Koch’s bacillus, therefore the bacillus was the cause of TB was like claiming that the pyramids of horse manure in Strasbourg streets were caused by the sparrows which perched on top!
III Dercum's disease
(Adiposis dolorosa)
- Characterised by multiple painful lipomas located on the trunk and limbs with sparing of the face, but can affect the heart and lungs.
- Initally decribed by Dercum in 1892 in three obese middle aged women, but now shown to affect men and women of all ages with the disease causing the obesity and painful lipomas and not the obesity causing the disease.
A 45 year old woman presented with a large mass in her right breast. Mammography ( figure 6 and figure 7) identified a large low density well defined mass centrally in her right breast. Core biopsy confirmed a lipoma. The patient had multiple painful trunk and limb nodules which on ultrasound ( figure 8) were hyperechoic well defined oval masses consistent with subcutanous lipomata. A diagnosis of Dercum's disease was made.
Professor Frances Xavier Dercum (1856-1931)
Fig.: Professor Frances Xavier Dercum.
References: 1994-2010 Ole Daniel Enersen.
- American neurologist, professor of nervous and mental disease at Jefferson Medical College.
- Elected president of the American Philosophical Society (APS).
- His death at an APS meeting sitting in the “ladder library chair”, crafted by Benjamin Franklin, was described in press “Dr. Dercum dies as he presides over scientists”.
IV Erdheim-Chester disease
(Polyostotic sclerosing histiocytosis or non Langerhans-cell histiocytosis)
- Lipid storing non Langerhans-cell histiocytes localize to the bones or multiple organ systems with onset in middle age.
- >50% have extra skeletal involvement including kidney, lung, brain, skin or breasts.
- Very rare-80 reported cases in the literature.
A 73 year old woman with known Erdheim-Chester disease presented with a painless hard breast mass. Mammography (figure 9) and ultrasound (figure 10) confirmed an 8cm irregular mass which was confirmed as extraskeletal Erdheim-Chester disease on core biopsy. First described by Jakob Erdheim and William Chester in 1930. They described two patients who had a distinctive lipidosis with associated bone changes.
Professor Jakob Erdheim (1874-1937)
Fig.: Professor Jakob Erdheim in the Vienna Municipal Hosital Morgue
References: Romm S (1987) Jakob Erdheim: Eminent Pathologist of Vienna. American Journal of dermatopathology 9: 447-450
- Professor Jakob Erdheim an eminent Austrian pathologist
- Beside other complex syndromes, the craniopharyngioma, was originally named after him – “Erdheim Tumor”.
V Paget's disease of the breast
- An eczematous skin condition of the nipple and areola due to infiltration of malignant epithelial (Paget) cells in the epidermis.
- >97% cases are associated with underlying breast cancer, invasive in 90%
- MRI is indicated if mammograms are normal
A 74 year old woman presented with an itchy sore nipple. A punch biopsy confirmed Paget's disease of the nipple (figure11).
1st Baronet Sir James Paget (1814-1899)
Fig.: 1st Baronet Sir James Paget
References: 1994-2010 Ole Daniel Enersen.
- British Surgeon & one of the founders of modern pathology
- In 1854 became surgeon to Queen Victoria
- Narrowly escaping death from infection following a cut during a post mortem, went on to describe 10 conditions including Paget’s disease of bone, Paget’s abscess, Paget-Schrotter disease and Paget’s sign.
- in 1874 reported a chronic eczematous disease on the skin of the nipple and the areola in 15 women, with associated intraductal carcinoma.
VI Cowden's disease
(Multiple hamartoma syndrome)
- Rare autosomal dominant condition characterised by multiple hamartomata; characteristic skin lesions occur by age 20
- Caused by defect in PTEN tumour suppressor gene.
- Increased risk of developing cancer, including breast, thyroid,endometrial, brain and renal.
- 25-50% lifetime risk of developing breast cancer and 75% lifetime risk of benign breast conditions such as ductal hyperplasia, fibroadenomas and fibrocystic changes.
A 25 year old woman presented with multiple masses in both breasts. Ultrasound ( figure 12) demonstrates a lobulated hypoechoic mass - a biopsy proven fibroadenoma.T1W- fat suppressed -post gadolinium MRI (figure 13) demonstrates multiple well defined fibroadenomata within both breasts. No malignant tumour was found on MRI or the biopsies taken, but the patient opted for bilateral prophylactic mastectomy due to the high risk of future malignancy.
Dr KM Lloyd and Dr M Dennis
Fig.: Dr KM Lloyd
References: 1994-2010 Ole Daniel Enersen.
- First described in 1963 by Dr KM Lloyd & Dr M Dennis, American dermatologists
- They named the condition after the surname of the index patient.
- Dr Lloyd continues to practise as Chief, Dermatology Service, Youngstown, Ohio .
VII Poland's syndrome
(Underdevelopment or absence of the pectoralis muscle)
- Ipsilateral breast and nipple hypoplasia/ aplasia with deficient subcutanous fat and axillary hair.
- absence of the sternal head of the pectoralis muscle.
- hypoplasia of the rib cage and upper extremity.
- cutanous syndactyly.
A 29 year old woman with known Poland's syndrome. Axial CT (figure 14) of the thorax demonstrates absence of left breast tissue, left pectoralis muscles and a hypoplastic left chest wall.
Sir Alfred Poland ( 1820-1872)
Fig.: Sir Alfred Poland
References: Welcome Library, London, UK
- In 1841 Sir Alfred Poland described this chest wall anomaly whilst still a medical student.
- He had dissected a convict named George Elt who had a hand and chest wall deformity.
- After publishing the findings in the Guy's Hospital Gazette, the hand was dissected and still remains to this day in the Guy's Hospital Museum.
- An eminent surgeon and teacher, he was careless of his appearance and although warned by the Treasurer to "dress more decently and cleanly", ignored this advice.
- Finally died of TB "consumption".
VIII Mondor's disease
(Superficial venous thrombophlebitis)
- Sclerosing thrombophlebitis of the subcutanous veins of the anterior chest wall/ breast.
- Initally the vein is red and tender but subsequently becomes a painless tough fibrous band accompanied by skin retraction.
- A rare condition. Although benign and self limiting, patients often present acutely with a breast mass and there has been a reported association with breast cancer.
Mammography in a 37 year old woman with a palpable superficial linear mass laterally in her right breast confirms the dense tubular structure (figure 15) corresponding to a thromobosed vein. This resolved spontaneously after 3 months.
Henri Mondor ( 1885-1962)
Fig.: Dr Henri Mondor
References: 1997-2006 T Schwartz
- Eminent French physican, surgeon and historian of French literature and medicine
- Well known for his studies of rectal cancer.
- The large university hopsital in Creteil, on the outskirts of Paris has been named in his honour - Hôpital Henri Mondor to recognise his outstanding contribution to French medicine.