Skin Discoloration
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| **Physiologic Disorders of Neonatal Skin** | .
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| Cyanosis of the hands, feet and sometimes lips, but never the entire baby (central cyanosis) ? | * Acrocyanosis
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| Acrocyanosis is caused by ? | * increased tone of peripheral arterioles, usually in response to chilling (no need to worry)
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| Netlike, reddish-blue mottling of the skin and occurs symmetrically over trunk and extremities ? | * Cutis Marmorata (is a normal response to chilling)
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| Cutis Marmorata is caused by ? | * Caused by variable vascular constriction and dilation
...... * Can also be a sign of sepsis, so look for it too
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| 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
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| 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
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| 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
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| 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)
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| **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
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| **Birthmarks** | .
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| Flat, gray to bluish-black macules = ? | * Mongolian Spots
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| 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
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| **More Birthmarks -- Vascular Malformations** | .
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| Most common vascular lesion of infancy and are Pale/pink macules or poorly circumscribed patch ? | * Salmon Patch (Stork Bite) aka Nevus Simplex
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| Salmon patch basics = ? | * Often symmetric with lesions on both sides of midline (nose and mid back).... *Usually fade in first year of life
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| Present at birth and remain through life and are sharply circumscribed, pink to purple, usually unilateral ? | * Port-Wine Stain
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| Port Wine Stain basics ? | * from mature dilated dermal capillaries and represent a permanent defect
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| 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
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| 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
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| Port-wine stain over the ophthalmic branch of the trigeminal nerve = ? | * Sturge-Weber Syndrome
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| What do we see with Sturge-Weber Syndrome ? | * Intracranial calcifications
-- Seizure disorder
-- Hemiparesis (perm or intermit) (contralateral)
-- Glaucoma
-- Mental retardation (from int Ca)
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| Port-wine stain on an extremity associated with local overgrowth of soft tissue and bone = ? | * Klippel-Trénaunay-Weber Syndrome
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| Klippel-Trénaunay-Weber Syndrome basics = ? | * usu on the lower limbs .... * enlargement is gradual, so we must monitor for leg-length discrepancies
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| 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
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| 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
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| 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)
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| Deep HI = ? | * Most are deep seated capillary hemangiomas with little penetration of the overlying skin.... * May be associated with underlying structures
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| 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)
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| Comp. of Hemangiomas -- Kasabach-Merritt Syndrome = ? | * Rapidly enlarging hemangioma causing very turbulent blood flow... * get coag. issues such as anemias and clots
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| Treatment of Hemangiomas = ? | * Observation as most have spontaneous involution
... * ref. if a structure compromise
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| Get from Pityrosporum orbiculare (Malassezia furfur) ? | * Tinea Versicolor - Heat and humidity predispose to infection... * can see hypo or hyperpigmented skin macules
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| 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
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| Diff. Dx for Tinea Versicolor = ? | * Vitiligo, but in Tinea, we can scrape off the macules
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| 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
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| Immune mediated destruction of melanocytes = ? | * Vitiligo - see brown skin (looks like a brown paper bag like lesion)
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| 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
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| A defect in melanin synthesis resulting in reduced or absent pigmentation (where melanocytes ARE present however, NO melanin)= ? | * Albinism
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| 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
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| A sign of Occulocutaneous Albinism = ? | * Iris translucency = in a dark room, shine a light on the iris, and it is a pink/red color
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| Autosomal DOMinant disorder characterized by congenital patterned areas of depigmentation, including a white forelock = ? | * Piebaldism
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| Piebaldism MoA = ? | * Defective differentiation of melanoblasts to melanocytes (NO melanocytes at all!)
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| 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
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| 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)
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| 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)
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| 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
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| TS Dx = ? | * see the ash-leaf spots and even better under a woods lamp
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| What is Neurofibromatosis ? | * Auto Dominant (so family will also have this)... * See NF-1 and NF-2
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| 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
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| 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.
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| 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
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