Download Dermatology

CASE PRESENTATION
KAREN ESTRELLA
PGY-1
JAN/2010
CASE
• 4mo F comes for WCC
• PMHX:
BIRTH HX: FT, C/S sec to fetal bradycardia and
maternal preeclampsia, Apgar 9-9
• Bwt: 1850 gr, Lt:44.5cm, HC: 31 cm
– SGA = 28wks
• Serology neg,
• Admitted to NICU for 13 days
Hearing: ok
Neonatal screening: neg
• Feeding: soy milk, appropriate stooling,
urination and sleep patterns.
• Vaccines: UTD
• Development: recognizes mother, lifts head,
follows objects,
• Lives with mother and sister in shelter
Mom noticed:
• White lesions in abdomen, that have spread
towards right abdomen right chest and axillary
region.
Physical exam:
Consult: DERMATOLOGY
• Skin type: IV (light brown skin)
1975
Description of lesions:
Blaschkoid hypopigmented reticulated macules and
patches that don’t cross midline
What means Blaschkoid?
Blaschkoid refers to normally invisible lines in the
skin that are believed to trace the migration of
embryonic cells (mesodermal and ectodermal
precursors) after X activation or inactivation. (Alfred
Blaschko, 1901)
– These lines do not correlate with nervous, lymphatic
or muscular systems
– Genetic mosaicism
Differential Diagnosis
• Pigmentary disorders
– Hypomelanosis of Ito
– Nevus depigmentus
– Nevoid hypermelanosis
• X-linked genetic skin disorders
– Incontinentia pigmenti
– CHILD syndrome
• Acquired inflammatory skin rashes
– Lichen striatus
– Lichen planus
Hypomelanosis of Ito
• Linear, patchy or whorl-like hypopigmented
macules occurring on any part of the body along
the Blaschko lines (described in 1952 by Ito)
• Scalp, palm, soles are not affected
• Lesions first appear as small 0.5-1 cm that merge
to form larger patches
• Macules cover more than two dermatome
• Unilateral or BL but show midline cutoff
• Patches are not symmetrical
• Not preceded by vesicles or papules
• Related to chromosomal mosaicism in 9q33qter, 15q11-q13, and Xp11.
– It is not inherited, due to mutation occurs
postconception
• It is 1.2-2.5x more frequent in females
• Data indicate: 1 in 7000 outpatient visits.
• Present since birth (54%) and by 1 yr (70%).
Diagnosis
Based on HPI and PE
Histopathology (skin bx)
Decreased amount of melanocytes in affected
areas, chromosomal anomalies in fibroblasts
Associations
• None (50%)
• CNS (76%)
– Seizures (TC), mental retardation, develomental
delay, autism, deafness, hypotonia
– Hemi-megalencephaly, agenesis of the corpus
callosum, focal cerebral vascular abnormalities,
and rarely tumors (medulloblastoma, choroid
plexus papilloma)
• Ocular (50%)
– Retinal pigment abnormalities, cataracts,
microphtalmia, pupillary atrophy, nystagmus
• Musculoskeletal
– Hemihypertrophy ((ipsi), syndactily,
• Dysmorphism (20%)
– Cleft palate, nail –teeth abnormalities (anodontia),
bifid uvula, delayed fontanelle closure,
• Cardiac
– ASD, VSD
• Abdominal: umbilical hernias, glomerulosclerosis
Other pathologies for differential
• Nevoid
hypermelanosis:
– Similar skin
characteristics to HI
(streaked or whorl-like
lesions) but not
associated with systemic
features.
– Appear in infancy and
later spread to rest of
body.
Nevus depigmentus:
• Circumscribed lesions
(hypopigmented) since
birth, with no systemic
associations
Incontinencia pigmenti
• Cutaneous lesions
undergo 3 steps:
1. Vesicles: 1st 2 wks of life
in flexor areas of limps
2. Pustular: 2-6wks later,
turn kerotic
–
More distal and dorsal
3. Hypopigmented: 12-36
wks (melanin in dermis)
• X-linked (deletion of
IKBVG)
• Associated with:
– alopecia, hypodontia,
retinal detachment and
mental retardation
• Stage 1
Stage 3
Prognosis
• Normal life-spam
• Good, depends if associated with other
systems
• Consider genetic counselling
CHILD Syndrome
Congenital
Hemidysplasia
(viscera)
Icthyosiform
erythroderma
(scaling plaques in folds)
Limb
Defects.
Lichen
Planus:
Striatum:
Immune response
Pruritic, violaceous papules
Vesicles, self-limited,
Our patient
• At approx imately 1 mo of age: had an
episode of stiffness in 4 extremities x 30 sec ,
no shaking, no cyanosis, + apnea
– Seen at NY Presbiterian, where Neurology did EEG
and CT scan which where normal
– Evaluated by cardiology for “ skipping heart beats”
CXR and EKG normal
Consult: NEUROLOGY
• Borderline microcephaly (P3)
• Tone mildly increased, no clonus,
• F/U in 3months, if persists: MRI
Follow-up
Dermatology terms to review:
• Macule: <1.5cm,
smooth, discoloration
• Patch:
• Papule: <1cm, palpable
• Plaque: