Testicular torsion - Key points for the USMLE

Torsion is the most common cause of acute scrotal swelling and pain
-Underlying cause is a high attachment of tunica vaginalis that occurs in 12% of males
-Symptoms may include nausea and vomiting  and even fever (in addition to testicular symptoms)
-Examination may demonstrate a horizontal and elevated testis
-The cremasteric reflex is usually absent, but its presence does not rule out testicular torsion.
-Elevation of the scrotum does not relieve the pain 
-Doppler can confirm diagnosis although it is often not needed
-If surgery is done after 6 hours of onset the chances of testicular atrophy are extremely high
-During surgery the opposite (normal) testis is also fixed because the high attachment anomaly is often bilateral

Differential diagnosis:
1) Acute epididymitis and/or orchitis
-Onset is more gradual with fever and dysuria.
-Elevation of the scrotum may reduce discomfort
-Cremasteric reflex may or may not be present
-Teatment is with rest, analgesia, and antibiotics if there is concern about a bacterial infection

2) Torsion of the appendix testis
-Localized tenderness over the upper portion of the testis
-Blue dot sign
-Cremasteric reflex is present
-Treatment is analgesia

Asperger syndrome vs Autism key points

Asperger disorder
-Impairment in social interaction (few interests)
-They are aware that they do not fit in socially.
-Unlike autistic children, they do not express basic language impairment (only minor problems)
-Treatment is behavior modification and cognitive-behavioral therapy are used to improve level of function.
-Some consider this condition as high functioning autism

Autism
-Usually manifests itself before age 3 years (Asperger may be later)
-Triad of
---Impairment in social interaction (no friends, no empathy)
---Language delay
---Ritualistic behaviors and a strong need for sameness and consistency
-Treatment includes intense family support, behavior modification, speech and language training, auditory integration training, and medication.

Epstein's pearls and Bohn's nodules

Epstein's pearls are tiny cystic lesions of the palate found in approximately 2/3rds of newborns. They are visible over the region of fusion of the posterior palatal segments and are a result of the inclusion of epithelial cells during palatal fusion.  Bohn's nodules are also benign and much less frequent than Epstein's pearls. They occur along the junction of the hard and soft palate or adjacent to the midpalatal raphe and are derived from epithelial remnants of developing palatal salivary glands. Distinction between Epstein's pearls and Bohn's nodule is difficult and clinically irrelevant because both of these lesions regress and require no treatment.

Do not confuse these with the following conditions:

Congenital epulis is a very rare tumor seen in the newborn period (especially in females). It is usually firm and pedunculated and visible on the anterior alveolar ridge of the maxilla. It is benign in nature but may lead to difficulty with feeding and/or respiration requiring excision.

Mucoceles are clear fluid-filled, well-circumscribed, small lesions usually visible on the labial mucosa of the lower lip. These occur as a result of trauma to a submucosal salivary duct, usually from blunt trauma or lip biting. They usually also require no treatment. Large lesions may be de-roofed.

Rett syndrome key points

Rett syndrome
-X-linked dominant (Affects girls).
-Onset is in the second year of life.
-Typically there is regression in motor and language development
-Autistic behaviors are common
-There is acquired microcephaly
-Characteristic hand-wringing behavior

Poor prognosis. No specific treatment.

Vitiligo

Vitiligo is characterized by hypopigmentation of the skin. It is an autoimmune condition that results from melanocyte dysfunction.

Image from Wikimedia Commons.
Available here:http://en.wikipedia.org/wiki/File:Vitiligo2.JPG

Signs and symptoms

-Hypo or depigmented patches that often enlarge and change shape.
-Most prominent on the face, hands and wrists.

Treatment

-UVB phototherapy with or without Psoralen, a material that increases the effect of the UV light. It can be done at home or a few times a week in the clinic.
-Studies have shown that immunomodulators such as topical tacrolimus (Protopic) and pimecrolimus (Elidel) may also cause improvement in some cases, when used with UVB narrowband treatments
-Psoralen and Ultraviolet A light (PUVA) therapy is generally performed in clinic setting.
-Skin camouflage/make up
-Depigmenting with topical drugs like monobenzone, mequinol or hydroquinone may be considered to make the not vitiligous skin appear fairer and uniform. It increases risk of melanoma and consistent sun protection should be advised.

Differential diagnosis

-Pityriasis alba
-Tuberceloid Leprosy
-Post inflammatory hypopigmentation
-Tinea versicolor
-Albinism
-Piebaldism

USMLE pearl: Vitiligo is often associated with other autoimmune diseases including Hashimoto thyroiditis, type I Diabetes Mellitus, Addison's disease, pernicious anemia etc.