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Skin Discoloration

**Physiologic Disorders of Neonatal Skin** .
Cyanosis of the hands, feet and sometimes lips, but never the entire baby (central cyanosis) ? * Acrocyanosis
Acrocyanosis is caused by ? * increased tone of peripheral arterioles, usually in response to chilling (no need to worry)
Netlike, reddish-blue mottling of the skin and occurs symmetrically over trunk and extremities ? * Cutis Marmorata (is a normal response to chilling)
Cutis Marmorata is caused by ? * Caused by variable vascular constriction and dilation ...... * Can also be a sign of sepsis, so look for it too
Cutis Marmorata that we see that persists in older children ? * Persists in older children with Trisomy 18, Trisomy 21, Cornelia de Lange syndrome, hypothyroidism, or cutis marmorata telangiectatica congenita
Usually presents at birth and occurs on any body part and presents looking like numerous vessicles/pustules all over the head ? * Transient Neonatal Pustular Melanosis
Transient Neonatal Pustular Melanosis basics = ? * Disappears in 24 to 48 hours leaving pigmented macules with a scale (but go away too) ..... * see numerous neutrophils when a stain is taken (Buzzword).... * The vesicles bust when you rub your hand over them
Asymptomatic pinpoint clear vesicles suddenly erupt over large areas ? (look like little pinpoint white dots) * Miliaria Crystallina - from immature sweat ducts (usu from heat rash)
**Review on how you can tell Miliaria Crystallina and Transient Neonatal Pustular Melanosis apart? ** * Transient = We can tell this from miliaria crystallina because of the timeframe and sequelae of pigmented macules, and vesicles DO rupture as you run your hands over them
**Birthmarks** .
Flat, gray to bluish-black macules = ? * Mongolian Spots
Mongolian Spots basics and MoA = ? *from the accumulation of melanocytes in the dermis and are Poorly circumscribed..... * Usu see blue/black areas on the back and butt... * HIGH prev. in blacks and Asians....* No risk of malignancy
**More Birthmarks -- Vascular Malformations** .
Most common vascular lesion of infancy and are Pale/pink macules or poorly circumscribed patch ? * Salmon Patch (Stork Bite) aka Nevus Simplex
Salmon patch basics = ? * Often symmetric with lesions on both sides of midline (nose and mid back).... *Usually fade in first year of life
Present at birth and remain through life and are sharply circumscribed, pink to purple, usually unilateral ? * Port-Wine Stain
Port Wine Stain basics ? * from mature dilated dermal capillaries and represent a permanent defect
Thing that is a helps separate Port of Wine from a Salmon Patch ? * Salmon patches can be blanched when pressed and Port of Wine can not
Some things also seen with Port of Wine stains ? * Hypertrophy of underlying structure and Spontaneous bleeding... * also at High risk from an increase in IOP
Port-wine stain over the ophthalmic branch of the trigeminal nerve = ? * Sturge-Weber Syndrome
What do we see with Sturge-Weber Syndrome ? * Intracranial calcifications -- Seizure disorder -- Hemiparesis (perm or intermit) (contralateral) -- Glaucoma -- Mental retardation (from int Ca)
Port-wine stain on an extremity associated with local overgrowth of soft tissue and bone = ? * Klippel-Trénaunay-Weber Syndrome
Klippel-Trénaunay-Weber Syndrome basics = ? * usu on the lower limbs .... * enlargement is gradual, so we must monitor for leg-length discrepancies
Hemangiomas of Infancy basics ? * Most common benign tumor of infancy and 3 x higher in females..... * The hallmark of vascular hemangiomas is they are blood vessels which means they may affect growth in that area abnormally
HI MoA = ? * Composed of proliferating vascular endothelium ...... * Proliferative phase until 9-12 months and Involution usually complete by 6-10 years.... * Basically, they will grow larger before they shrink
Superficial HI = ? * “Strawberry” capillary hemangiomas .... * Usually not noticed in the first few days of life and begin as a flat macule ... * Grow rapidly and protrude from the surface of the skin (have a texture to them unlike Port Wine Stain)
Deep HI = ? * Most are deep seated capillary hemangiomas with little penetration of the overlying skin.... * May be associated with underlying structures
Complications of Hemangiomas (Rare) ? * When they develop in a beard distribution pattern (AW compromise)... * around the eye (Amblyopia, Strabismus,Astigmatism)...* around the nose (deviated septum)
Comp. of Hemangiomas -- Kasabach-Merritt Syndrome = ? * Rapidly enlarging hemangioma causing very turbulent blood flow... * get coag. issues such as anemias and clots
Treatment of Hemangiomas = ? * Observation as most have spontaneous involution ... * ref. if a structure compromise
Get from Pityrosporum orbiculare (Malassezia furfur) ? * Tinea Versicolor - Heat and humidity predispose to infection... * can see hypo or hyperpigmented skin macules
Tinea Versicolor predisposing factors and Dx = ? * OCPs and immunocomp. ppl are predisposed to this.... * Dx = see the "spaghetti and meatball look" with a KOH stain.... * glow with woods lamp
Diff. Dx for Tinea Versicolor = ? * Vitiligo, but in Tinea, we can scrape off the macules
Pityriasis Rosea basics = ? * associated with reactivation of HHV 6 and 7.... * see a Herald Patch (lg oval, raised plaque) and see Exanthem (Fine scaling papules and plaques) in a X-Mas tree shape over the back and front
Immune mediated destruction of melanocytes = ? * Vitiligo - see brown skin (looks like a brown paper bag like lesion)
Vitiligo Dx = ? * see Autoantibodies against melanocyte specific antigens, tyrosinase and TRYP-1 have been seen ...... * also Look for other commonly associated autoimmune disorders, bc where one is, there are prob. more
A defect in melanin synthesis resulting in reduced or absent pigmentation (where melanocytes ARE present however, NO melanin)= ? * Albinism
Main thing to look at in Albinism ? * Is it Occular Albinism or not?... * if it is, there is squinting due to photophobia and nystagmus and possibility of monocular vision loss
A sign of Occulocutaneous Albinism = ? * Iris translucency = in a dark room, shine a light on the iris, and it is a pink/red color
Autosomal DOMinant disorder characterized by congenital patterned areas of depigmentation, including a white forelock = ? * Piebaldism
Piebaldism MoA = ? * Defective differentiation of melanoblasts to melanocytes (NO melanocytes at all!)
What is Waardenburg Syndrome ? * Autosomal dominant disorder.... * see a broad nasal root, partial or total heterochromia of the iris, piebaldism of the skin or hair, and congenital sensorineural deafness..... * Basically Piebaldism, but with these traits
Characterized by linear or swirled hypopigmented patches along the lines of Blaschko as a result of cutaneous mosaicism = ? * Hypomelanosis of Ito (usu present at birth).... * Look like little swirls all over the skin (white or cinnamon color)... * 30% have associated abnormalities of the bones, eyes and CNS. (so see if they have these, if not, then its not a big issue)
Tuberous Sclerosis basics ? * auto. dominant disorder.... * see Hypopigmented macules (look like ash-leaf spots)... * see confetti spots....* also see Tuberous sclerosis: angiofibromas in adults (looks like red/greasy acne around the nose area)
TS big issues = ? * behavior problems, mental retardation, and seizures.... * also 30% die before the fifth year of life, and 50–75% die before reaching adult age
TS Dx = ? * see the ash-leaf spots and even better under a woods lamp
What is Neurofibromatosis ? * Auto Dominant (so family will also have this)... * See NF-1 and NF-2
Some things we see in NF-1 and NF-2 ? * Both types have café-au-lait spots and neurofibromas.... * NF-1 = pigmented hamartomas of the Iris (Lisch Nodules).... * NF-2 = has bilateral acoustic neuromas
When we see CxSx = ? * Café-au-lait spots appear during the first 3 years; NF appear during late ado. May see HTN headaches (pheochromocytomas), pathologic fractures (bone cysts), mental retardation, brain tumor (astrocytoma), short stature, precocious puberty.
CxDx = ? * should cross your mind when we see any of the last CxSx and if we see freckles in the axiallary regions, precocious puberty, bones fracture easily.... * Diff. Dx = Consider McCune Albright
Created by: thamrick800