Dermatology - Systemic diseases

Autosomal dominant

Neurofibromatosis is inherited by which type of pattern?

3 multiple choice options

neurofibromin

A defect in the ___ gene causes neurofibromatosis

childhood

In neurofibromatosis when is NF1 diagnosed?

- greater than 6 cafe au lait macules

- two or more neurofibromas

- axillary or inguinal freckling

- optic glioma

- two or more lisch nodules (on iris)

- first degree relative with NF

- skeletal deformity

(must have two for diagnosis)

What are the diagnostic criteria for neurofibromatosis?

Neurofibromatosis

What is the diagnosis?

Plexiform neurofibroma

What is the diagnosis?

- ophthalmology, neurology, orthopedics, and derm

Which referrals should be given for an NF patient?

Dermatitis herpetiformis

Which type of dermatitis is associated with gluten insensitivity?

- children

- asians and African americans

Dermatitis herpetiformis is rare in which demographics?

Dermatitis herpetiformis

clustered vesicles (often destroyed by scratching) and excoriations on elbows, knees, back

Skin biopsy with DIF

Which diagnostic test is appropriate if dermatitis herpetiformis is suspected?

thyroid disease and T cell lymphoma

In DH there is an increased risk of ___ and ___

- gluten avoidance

- dapsone orally (G6PD deficiency screening and CBC monitoring)

Tx for dermatitis herpetiformis?

sunlight and medications

Cutaneous lupus is exacerbated by ___

Acute cutaneous lupus

Which form of cutaneous lupus has the strongest association with SLE?

3 multiple choice options

Chronic cutaneous

Which form of cutaneous lupus is the most common?

3 multiple choice options

Acute cutaneous

A malar rash is indicative of which type of cutaneous lupus?

3 multiple choice options

Annular and papulosquamous

Subacute cutaneous lupus has two presentations, what are they?

Chronic cutaneous lupus

Discoid lupus is the most common form of ___

3 multiple choice options

discoid lupus

Epidermal atrophy with adherent scaling and follicular plugging is indicative of ___

Acute cutaneous lupus

What is the diagnosis?

Subacute cutaneous lupus (annular)

What is the diagnosis?

Subacute cutaneous lupus (papulosquamous)

What is the diagnosis?

Discoid lupus

What is the diagnosis?

Discoid lupus

What is the diagnosis?

- Skin biopsy

- CBC

- CMP (renal fxn)

- Urinalysis (renal fxn)

- ANA with reflex to ENA

Workup for suspected cutaneous lupus?

- strict sun avoidance

- anti-inflammatory treatment (topical steroids, calcineurin inhibitors, and intralesional steroids)

- systemic immunosuppressants (prednisone, chloroquine, methotrexate, azathioprine, benlysta)

- Rheumatology ref if systemic invovlement

Tx of cutaneous lupus?

Dermatomyositis

Autoimmune connective tissue disease characterized by extensor myopathy, violaceous cutaneous eruptions and pathogenic autoantibodies

- cutaneous lupus

- scleroderma

- dermatomyositis

Periungal telangectasias are commonly found in which diagnoses?

dermatomyositis

Heliotrope rash is seen in ___

dermatomyositis

Shawls sign is photosensitive violaceous eruptions on the shoulders neck and chest seen in ___

dorsal hands and knuckles

Atrophic dermal papules of dermatomyositis can be found on the ___

ADPDM (dermatomyositis)

What is the diagnosis?

Dermatomyositis

What is the diagnosis?

Dermatomyositis

What is the diagnosis?

- skin biopsy

- Anti Jo-1 antibodies

- Check for proximal muscle weakness (CK?)

- Screen for occult malignancy

Workup for dermatomyositis?

- sun avoidance

- topical corticosteroids

- systemic immunosuppressants (methotrexate, cyclosporine, mycophenolate mofetil, azathioprine)

Tx of dermatomyositis?

lungs and skin

In sarcoidosis the ___ and ___ are most commonly affected

Sarcoidosis

noncaseating granulomas develop in which disease?

Face (m/c), neck, arms and upper trunk

Sarcoidosis is most commonly found on which areas?

Sarcoidosis

What is the diagnosis?

Sarcoidosis

What is the diagnosis?

Sarcoidosis

What is the diagnosis?

Erythema nodosum

Sarcoidosis PE can also show which other skin condition?

- skin biopsy

- CXR (Pilar lymphadenopathy)

- pulmonary fxn tests

- cardiac eval

- ophthalmology

- labs: TB, serum CA2+, ACE, ANA

Sarcoidosis workup?

- topical corticosteroids

- calcineurin inhibitors

- oral prednisone

- hydroxychloroquine

- methotrexate

- azathiopine

- infliximab

Tx of sarcoidosis?

Pyoderma gangrenosum

What is the diagnosis?

Pyoderma gangrenosum

What is the diagnosis?

Pyoderma gangrenosum

Neutrophilic infiltration of tissue, destruction and ulceration

Pyoderma gangrenosum

___ appears infected but has no microbial etiology

Pyoderma gangrenosum

___ occurs in association with IBD, arthritis, hematologic dyscrasia and malignancy

Pyoderma gangrenosum

painful, irregular, boggy, blue-red ulcers with violaceous undermined borders and a purulent necrotic base

- avoid debridement

- treat underlying pathology

- topical steroids

- calcineurin inhibitors

- intralesional steroids

- high dose oral steroids

- sulfasalazine, cyclosporine

- infliximab, etanercept, adalimumab

Tx of pyoderma gangrenosum?

Necrobiosis lipoidica

Inflammatory condition of collagen degeneration more common in women

Anterior shins

M/C site of necrobiosis lipoidica?

50

More than ___% of people with necrobiosis lipoidica will develop diabetes

Necrobiosis lipoidica

Round, violaceous patches which turn orange with time on anterior shins with central atrophy, shiny waxy surface, and prominent telangectasias

Necrobiosis lipoidica

What is the diagnosis?

Necrobiosis lipoidica

What is the diagnosis?

Necrobiosis lipoidica

What is the diagnosis?

Necrobiosis lipoidica

What is the diagnosis?

- topical and intralesional steroid

- pentoxifylline (Trental)

- diabetes screening

Tx of necrobiosis lipoidica?

Acanthosis nigricans

asymptomatic velvety rash of flexural skin, neck, axilla and groin

insulin resistance

Onset of acanthosis nigricans is associated with ___

internal malignancy

Sudden onset, extensive or atypical distribution (perioral, mucosal, palms) acanthosis nigricans should have evaluation for ___

- not required

- 12% lactic acid cream

- urea cream

- tretinoin

- salicylic acid

Tx for acanthosis nigricans?

Puetz-Jeghers syndrome

What is caused by a mutation of the STK11/LKB1 gene?

Puetz-Jeghers sydrome

Mucocutaneous pigmented macule of the mouth, lips, eyes, nose, hands, feet and anus

Puetz-Jeghers syndrome

What is the diagnosis?

Puetz-Jeghers syndrome

What is the diagnosis?

Puetz-Jeghers syndrome

What is the diagnosis?

Sign of leser trelat

Sudden appearance or sudden increase of seborrheic keratosis

Gastrointestinal adenocarcinoma

Which diagnosis is most common in sign of leser trelat?

Colon, ovaries, cervix, breast, lung, pancreas, and stomach

Patients with Puetz-Jegher are more at risk for which types of cancer?

Sign of leser trelat

What is the diagnosis?

Erythema Repens Gyratum

Pruritic, erythematous, annular eruption with edges that advance at a rapid rate (~1cm)

erythema repens gyratum

Around 70-90% of people with ___ have underlying malignancy (lung cancer m/c)

Erythema repens gyratum

What is the diagnosis?

Erythema repens gyratum

What is the diagnosis?

Essential pruritis

Generalized idiopathic itching without any primary lesions

Essential pruritis

Incidence of ___ is often exacerbated by harsh soaps and lack of moisturization

subclinical primary dermatitis

If topical steroids alleviate essential pruritis, it is suggestive of ___

- young with well moisturized skin

- failing to respond to gentle skin care and topical steroids

Underlying systemic issues should be suspected in essential pruritis if patient is ___

- liver disease/biliary obs

- renal disease

- thyroid disease

- anemia

- viral disease

- hematologic malignancy

Common etiologies of essential pruritis?

neurological cause

Focal pruritis without primary lesions is indicative of ___

lymphoma

Genital pruritis without a known cause can be a sign of ___

- CBC

- CMP

- TSH

- Iron studies

- Vit D

Workup for essential pruritis?

HIV/AIDS

Dermatoses with unusual or severe presentations or failure to respond to typical therapies should raise suspicion for___

viremia and can have visceral involvement

disseminated herpes zoster suggests

HIV/AIDS infection

Severe/erythrodermic or recalcitrant psoriasis is suggestive of ___

HHV 8

What causes Kaposi Sarcoma?

Kaposi Sarcoma

40% of men with aids develop ___

Candidal intertrigo

What is the diagnosis?

Thrush

What is the diagnosis?

Kaposi Sarcoma

What is the diagnosis?

Kaposi Sarcoma

What is the diagnosis?

- punch biopsy

- HIV testing

- oncology and infectious disease

Tx of Kaposi Sarcoma