TUBEROUS SCLEROSIS

Tuberous Sclerosis can affect shagreen spots of the skin, if present, likely on the back and kidney tumors

FACIAL ANGIOFIBROMAS OR ADENOMA SEBACEUM

This disease is an autosomal dominant disease and called Tuberous Sclerosis. The reason for it appealing is hiding in a genetically programmed hyperplasia of ectodermal and mesodermal cells and manifested by a variety of lesions in the skin, CNS (hamartomas), heart, kidney, and other organs. The principal early manifestations are the triad of seizures, mental retardation, and congenital white spots (macules). Facial angiofibromata are pathognomonic but do not appear until the third or fourth year.


Causes of Tuberous Sclerosis

Genetic alterations of ectodermal and mesodermal cells with hyperplasia, with a disturbance in embryonic cellular differentiation.

Symptoms of Tuberous Sclerosis

Ash leaf spots of skin, and less often, cafe-au-lait spots
Shagreen spots of the skin, if present, likely on the back
Red, highly vascular lumps on the face (adenoma sebaceum)
Mental retardation
Seizures
Rough growths under or around fingernails and toenails
Pitted dental enamel
Kidney tumors

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livedo reticularis

Livedo reticularis is a vascular condition characterized by a purplish discoloration of the skin, usually on the legs. This discoloration is described as lacy or net-like in appearance and may be aggravated by cold exposure.

Most often livedo reticularis causes no symptoms and needs no treatment. But it can be associated with serious underlying disorders, such as lupus, anti-phospholipid syndrome or Sneddon's syndrome. A rare complication of chronic renal dialysis known as calciphylaxis may first present with a livedo reticularis pattern. In addition, livedo reticularis may occur as a side effect of certain medications, such as hydroxyurea (Droxia, Hydrea).

When to see a doctor
See your doctor if:

• Pain or discomfort accompanies livedo reticularis
• Ulcers develop in the affected skin

When necessary, treatment depends on the underlying cause, if known, and the severity of symptoms.

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Diagnosis : Caput medusae

Caput medusae is the appearance of distended and engorged paraumbilical veins, which are seen radiating from the umbilicus across the abdomen to joinsystemic veins. The name caput medusae (Latin for "head of Medusa") originates from the apparent similarity to Medusa's hair once Venus had turned it into snakes.

Differential diagnosis

Inferior vena cava obstruction

• Cirrhosis cause portal hypertension.
• Produces abdominal collateral veins to bypass the high pressure portal system and permit venous return from the legs.

How to differentiate

Determine the direction of flow in the veins below the umbilicus. After pushing down on the prominent vein, blood will:

• Caput Medusae - flow is towards the legs
• Inferior vena cava obstruction - flow is towards the head.

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dermatomyositis

An 82-year-old man presents with 8 weeks of periorbital edema,

6 weeks of rash, and 2 weeks of bilateral shoulder and arm aches

and weakness. What is the diagnosis?

a. Polymyalgia rheumatica

b. Inclusion body myositis

c. Hypothyroidism

d. Polymyositis

e. Dermatomyositis

Ans. Dermatomyositis

• Three causes of idiopathic inflammatory myopathy:

Dermatomyositis (DM)

Polymyositis

Inclusion body myositis

• Dermatomyositis has a bimodal age distribution

• Skin findings associated with DM:

Heliotrope hue of the eyelids

Rash of the metacarpophalangeal and proximal interphalangeal

joints (Gottron’s papules)

Photosensitivity dermatitis of the face

• Proximal myositis with associated pain and weakness is

characteristic of DM

• The serum creatine kinase and aldolase values are usually

increased in DM

• The anti-Jo1 antibody is present in 25% of patients with DM

• The electromyogram is characteristic, but not diagnostic, of

the inflammatory myopathies

• Amuscle biopsy is suggested for all patients with inflammatory

Myopathy

• Patients with DM have an increased risk for cancer

• DM is treated with immunosuppressive drugs.

This is a dermatology question.this might not come in this way as a picture but the most tested points are heliotrope

rash and gottrons papules.you have to at least remember these and try asking your friends as many times as you can

….this is important…

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