27- Congenital/Genodermatoses Flashcards
X linked dominant Whorled pigmentation on trunk Preceded by vesicular and verrucous changes Appears in girls usually 4-6 weeks old Usually resolve by 1 year of age
Incontinentia pigmenti
Histo of incontinentia pigmenti
Vesicular stage:
Verrucous stage:
Hyperpigmented stage:
Vesicular- spongiosis with eosinophils
Verrucous- dyskeratotic cells within epidermis
Hyperpigmented- dermal melanophages (pigment incontinence)
Most frequently involved extra cutaneous manifestations in incontinentia pigmenti
Teeth-90%
Bones-40%
CNS- 33%
Eyes-35%
This X linked dominant disorder is an important cause of neonatal seizures and encephalopathy
Incontinentia pigmenti
A variant of incontinentia pigmenti that manifests as hypopigmentation
Autosomal dominant, no vesicular/verrucous stages
Higher CNS abnormalities
Polycystic kidney disease
Incontinentia pigmenti achromians
Treatment for incontinentia pigmenti
None
Usually fades by 2 years old
May have minimal residual pigmentation in adulthood
Differs from incontinentia pigmenti by being autosomal dominant and reticular pattern of pigmentation
Abnormal dermatoglyphics-absent ridges on fingerprint
Mutation in keratin 14
Naegeli- Franceschetti- Jadassohn syndrome
Ichthyosis of skin similar to colloidon baby
Hyperkeratotic βwhirl and swirlβ pattern on erythematous skin
Waxy, shiny skin with crushed eggshell configuration
Ichthyosis clears within first year
Chondrodysplasia punctata
Associated nail changes with chondrodysplasia punctata
Platonychia
Onychoschizia
Most common sex chromosome disorder
Klinefelter syndrome
Cause of hypercoagulable state in Klinefelter syndrome
Increased plasminogen activator inhibitor 1
Patients with Klinefelterβs are at increased risk of developing
SLE
Cancers( male breast, hematogenous, sarcoma)
Frequent heart condition in Turner syndrome
Coarctation of the aorta
Conditions that may mimic Turner syndrome
Escobar syndrome (multiple pterygium syndrome)- autosomal recessive
Noonan syndrome- autosomal dominant
Manifestations that suggest a RASopathy
Congenital heart defects
Severe feeding difficulty
Developmental motor delay
Hair and skin anomalies
Patients with RASopathies are at an increased risk for developing
SLE
Classic triad of tuberous sclerosis only present in minority of patients
Adenoma sebaceum
Mental deficiency
Epilepsy
Sebaceous Angiofibromas in cheeks, nose and forehead
Shagreen plaque
Koenen tumors (periungual angiofibroma)
Ash leaf macules
Tuberous sclerosis
Diagnosis for tuberous sclerosis
Woods light- ash leaf macules
Xray/CT UTZ MRI- calcified intracranial nodules
Fundoscopy- retinal tumors
Renal UTZ- renal angiomyolipoma
Hand and foot xray- bone cysts and sclerosis
Two gene mutations in tuberous sclerosis
TSC1- hamartin
TSC2- tuberin
Treatment of tuberous sclerosis
MTOR inhibitors (everolimus)- angiofibromas
Adenoma sebaceum- laser/dermabrasion
Autosomal dominant Neurofibromas Cafe au lait spots Giant pigmented hairy nevi Sacral hypertrichosis Cutis verticis gyrata Lisch nodules
NF1
Autosomal dominant
Bilateral acoustic neuromas
Absence of cutaneous lesions
NF2
NF2 patients are at greater risk of developing these tumors
Optic gliomas
Neurilemmomas
Meningiomas
Soft tumors that can be pushed down by light pressure (buttonholing)
Spindle cell proliferations with amphophilic myxoid stroma and mast cells
Proliferation of all supporting elements of nerve fibers
Neurofibromas
Virtually pathognomonic of NF1
Subcutaneous plexiform neurofibromas
Finding of how many cafe au lait macules measuring 1.5cm is diagnostic of NF1?
6 or more
Axillary freckling in NF1 is called _______ sign
Croweβs sign
Patients with NF1 are four times more likely to develop malignancy than the general population
True or false
True
Children with NF1 are 200-500 times more likely to develop this cancer
Malignant myeloid disorders