What is the syndrome that can result from mutation in Endoglin?

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)

Endoglin (ENG) or Activin receptor-like kinase-1 (ACK1, ACVRL1) -> proteins belonging to TGF-beta receptor complex that play a role in forming the vascular system

Telangiectasias, epistaxis, melena, AV malformations in liver, lung, CNS

What are these lesions found in this moustached AIDS patient in association with HHV-8?

Kaposi's Sarcoma

Name 3 autoantibodies associated with Duhring's Disease.

aka Dermatitis Herpetiformis:

Anti-Gliadin

Anti-Tissue Transglutaminase or Anti-Epidermal Transglutaminase

Anti-Endomysial

Name 3 syndromes associated with the PTEN gene.

Cowden's Syndrome

Bannayan-Riley-Ruvalcaba

Proteus Syndrome

What is the GENE mutated in a syndrome characterized by soft, painful, compressible blue cutaneous tumors associated with GI involvmeent and melena?

VMCM1 gene - Blue Rubber Bleb Nevus Syndrome

Autosomal dominant or sporadic

Cutaneous lesions, GI lesions -> melena

Lung, eye and CNS lesions

What is the gene mutated in Bloch-Sulzberger Disease?

NEMO

Incontinential Pigmenti

Stages:

1 = Vesicular

2 = Verrucous

3 = Hyperpigmentation

4 = Hypopigmentation

What are the genes responsible for a syndrome with hair shaft findings of alternating bright and dark bands?

XPD=ERCC2 or XPB=ERCC3 (DB = Dark Bands)

Trichothiodystrophy or PIBIDS or Tay's Syndrome

Photosensitivity, Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, Short stature

Reduced sulfur content in hair

Polarosocpy reveals tiger tail banding or trichothiodystrophy.  Can also see trichoschisis, pili torti, trichorrhexis nodosa.

Photosensitivity but no increased risk of skin cancer.

This disorder is similar to XP with photosensitivity and neurologic degeneration, however in contrast to XP, there is neither premature aging nor skin cancer.  Bird-headed facies, "Mickey Mouse" ears and dwarfism are hallmarks of this syndrome.

Cockayne Syndrome

Genes:  CSA=ERCC8, CSB=ERCC6, XPG

Mnemonic:  Walt Disney on cocaine

What are plexiform neurofibromas capable of transforming into in NF1? (either of 2 possible correct answers will be accepted)

Neurofibrosarcoma

Malignant Peripheral Nerve Sheath Tumor

Spastic tetraplegia can be seen in which syndrome?

Sjögren–Larsson syndrome

FALDH (Fatty aldehyde dehydrogenase) deficiency (they fall down) --> accumulated fatty alcohol/aldehyde lipids

More common in Sweden

Triad of congenital ichthyosis, di- or tetraplegia, mental retardation

Perifovial glistening white dots (fall down, see stars), grand mall seizures.

What is the name for the condition which presents as painless, symmetric, woddy "peau d'orange" induration of the upper back and neck in long-standing type 2 diabetic obese males?

Scleredema Diabeticorum

Type 1 = Acute type secondary to strep pyogenes

Type 2 = Associated paraproteinemia

Type 3 = Type 2 DM

What are the individual components of the acronym HAIRAN syndrome?

HyperAndrogenism

Insulin Resistance

Acanthosis Nigricans

What is the name for the condition associated with a positive "prayer sign"

Diabetic Limited Joint Mobility = Cheiroarthropathy

Tightness and thickening of the skin and periarticular tissue of the fingers with resultant painless loss of joint mobility

Physical therapy and tight control of hyperglycemia

What is this lesion consisting of red-brown papules which progress to sharply demarcated yellow-brown atrophic, telangiectatic plaques with a violaceous, irregular border?  Histology shows palisading granulomas containing degenerating collagen with inflammatory infiltrate containing plasma cells and multinucleated histiocytes.

Necrobiosis Lipoidica Diabeticorum (NLD)

Thought to be secondary to nonenzymatic glycosylation of dermal collagen and elastin.

Ulcer prevention.  No impact of tight glucose control on developing NLD, but diabetics with NLD have higher rate of microvascular complications and limited joint mobility.

What is this?  Hint:  It is the most common cutaneous manifestation of diabetes.

Diabetic Dermopathy or "Shin Spots" or Pigmented Pretibial Papules

Bilateral asymptomatic red-brown atrophic macules on the shins

No effective treatment.

What is the syndrome caused by mutation sin Fibrillin 1 that results in aortic root aneurysms, rupture and dissection as well as mitral valve prolapse?

Marfan's Syndrome

Striae distensae, abdominal wall hernias, elastosis perforans serpiginosa, upward ectopia lentis, tall stature, hyperextensible joints, pectus excavatum, arachnodactyly, kyphoscoliosis, emphysema, pneumothorax, Gorlin sign

This autosomal recessively inherited condition results from deficiancy of cystathionine beta synthase.

Homocystinuria

Deficient cystathionine beta synthase -> elevated srum homocysteine -> inhibition of collagen cross-linking

Arterial and venous thromboses, generalized osteoporosis, mental retardation, downward ectopia lentis.

Tx:  Avoid methionine and homocysteine.  Supplement with cysteine, pyridoxine, folate, B12.

This autosomal dominantly inherited disorder results from a mutation in COL3A1 encoding procollagen type 3 which results in arterial, bowel and uterine rupture.

Ehlers-Danlos Type IV (Vascular Type)

Type 3 collagen abundant in skin, lungs and vasculature.

Thin, translucent, easily bruisable skin, thin nose and upper lip.

Joint mobility is normal, although atlantoaxial subluxation can occur.

This autosomal recessively inherited disorder is caused by a mutation in the RECQL2 gene which encodes a DNA helicase.

Werner Syndrome (Adult Progeria)

Growth arrest at puberty, premature aging/balding/graying, sclerodermoid appearance, poikiloderma, leg ulcers, painful callosities of feet and ankles,  and cataracts by age 30

Premature cardiac atherosclerosis accounts for early death

Type 2 DM, tumors of uterus, breast, liver and thyroid.

This syndrome is characterized by osteogenesis imperfecta plus arthrogryposis multiplex.

Brack Syndrome

Arthrogryposis:  ("Hooked or curved joints") Multiple joint contractures, muscle weakness, fibrosis

What is the range of wavelengths known as the Soret band?

400 - 410 nm

At what wavelength doe plasma fluoresce in Variegate Porphyria?

626 nm (diagnostic)

Name 3 things that can cause pseudoporphyria.

U R Totally Nailed After Last Night's Party, Dude...

UVA

Renal failure on HD

Tetracycline

Nalidixic acid (quinolone Abx)

Amiodarone

Lasix

Naproxen/NSAIDs

Pyridoxine

Dapsone

What is the deficient enzyme in the form of porphyria that presents soon after birth with red urine, erythrodontia, and hypertrichosis?

Uroporphyrinogen III Synthetase (UPS delivers the baby)

Congenital Erythropoietic Porphyria (CEP)

Which form of porphyria can presnet with porphyrin gallstones in a child?

Erythropoietic Protoporphyria (EPP)

Ferrochelatase deficiency