Dermatologic Features in Pallister–Killian Syndrome and their Importance to the Diagnosis
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ABSTRACT: Pallister-Killian syndrome (PKS) is a potentially lethal disorder with facial dysmorphism, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease. PKS is causally associated with mosaic tetrasomy of chromosome 12p. A routine chromosome analysis in peripheral lymphocytes usually fails to detect the mosaic state. A prompt diagnosis rests on clinical awareness and a subsequent chromosome or molecular analysis in fibroblasts, buccal mucosal cells, or bone marrow cells. We report here on three infants with PKS. One infant had aortic dilatation, a previously unreported association in PKS. More importantly, all infants showed a recognizable, though mild, pattern of skeletal changes mainly affecting axial bones, including delayed ossification of the vertebral bodies and pubic bones, flared anterior ribs, and broad metaphyses of the long bones, particularly of the femora. These skeletal changes should be considered as a useful diagnostic sign in PKS. Awareness of the axial skeletal alterations can be helpful in prompting clinicians to search for mosaic tetrasomy 12p and perform chromosomal analysis in appropriate tissue types.European journal of medical genetics 02/2012; 55(3):167-72. · 1.57 Impact Factor
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reveal an infectious trigger. Only a very few instances of
hematologic adverse effects such as thrombocytopenia
(4,5). Periodic monitoring of serum triglycerides, choles-
terol, and transaminases are recommended but no con-
including complete blood count (1). We believe that the
agranulocytosis in this patient may have been due to an
idiosyncratic reaction to isotretinoin, but we cannot
association. Physicians monitoring patients on isotretin-
oin should be aware of the possibility of this rare, but
1. Goldsmith LA, Bolognia JL, Callen JP et al. American
Academy of Dermatology Consensus Conference on the
safe and optimal use of isotretinoin: summary and recom-
mendations. J Am Acad Dermatol 2004;50:900–906.
blood induced dyscrasias. Environ Toxicol Pharmacol
3. Laurence A, Boxer X. The phagocytic system. In: Behrman
RE, Kliegman MR, Jenson HB, eds. Nelson textbook of
pediatrics. Philadelphia: WB Saundres, 2004:717–723.
4. Friedman SJ. Leukopenia and neutropenia associated with
isotretinoin therapy. Arch Dermatol 1987;123:293–295.
5. Moeller KE, Touma SC. Prolonged thrombocytopenia
MEHMET AKIF OZDEMIR, M.D.*
MEHMET KOSE, M.D.?
MUSA KARAKUKCU, M.D.?
AYTEN FERAHBAS, M.D.?
TURKAN PATIROGLU, M.D.*
ESAD KOKLU, M.D.?
Paediatrics, ?Department of Dermatology, Faculty
of Medicine, Erciyes University, Kayseri, Turkey
DERMATOLOGIC FEATURES IN PALLISTER–
KILLIAN SYNDROME AND THEIR
IMPORTANCE TO THE DIAGNOSIS
Pallister–Killian syndrome (PKS) is a dysmorphic con-
Pallister et al in 1977 and later by Killian and Teschler-
majority of fibroblasts of the affected patients have 47
chromosomes, with an extra small metacentric chromo-
some. We describe a PKS patient with the typical
analysis of skin fibroblasts.
A 5-month-old boy was referred to the Clinical Genetic
Unit of the Paediatric Department because of dysmor-
phic features and developmental delay. The patient was
born at 35 gestational weeks with normal auxologic
parameters. After birth, because of the presence of
jaundice and dysmorphism in a premature child, a
chromosome analysis was performed, which revealed
normal karyotype 46,XY.
On examination he had the typical PKS phenotype
(Fig. 1A,B) as described in Table 1. Hypo-pigmented
cutaneous streaks on the trunk and legs were detected
using Wood’s light. Cytogenetic molecular examination
was performed on skin fibroblasts taken from a hypo-
pigmented streak. Fluorescence in situ hybridization
analysis detected a supernumerary isochromosome 12p
and confirmed the diagnosis of PKS (Fig. 2).
Pallister–Killian syndrome is a rare (less than 1:10,000)
and sporadic chromosomal abnormality characterized
by the mosaic presence of a supernumerary 12p iso-
chromosome. Affected patients have four copies of the
short arm of chromosome 12 instead of two and
although the anomaly is frequent in fibroblasts,
chorionic villi and amniotic fluid samples, it is rarely
identified in blood lymphocytes (2). The mechanism by
which isochromosomes are formed and the stage at
which this occurs is still under debate and not yet
The variability in the clinical features and presenta-
tion of PKS is great and it is possible to find at one end
severe forms with intrauterine death of the fetus and on
the other very mild forms. Moreover, recently, instances
of oro-facial digital syndrome type IX and of Fryns
syndromes have been revealed to be PKS after FISH
analysis (4,5). The clinical features that overlap with
OFD type IX are digital and oral anomalies, while the
clinical features that overlap with Fryns syndrome are
coarse face, diaphragmatic hernia, and cleft palate.
The complexity and variability of the clinical phe-
notype and the presence of overlap features with other
syndromes make the molecular cytogenetic test neces-
sary not only for a correct diagnosis, which is essential
for genetic counseling, but also for possible prenatal
Address correspondence to Mehmet Kose, M.D., Department
of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri
38039, Turkey, or e-mail: email@example.com.
Pediatric Dermatology Vol. 24 No. 4 July⁄August 2007
Various aspects of the phenotype of PKS will interest
the dermatologist, such as the facies characterized by an
high anterior hairline, sparse eyelashes and hypo-pig-
mented skin patches, which may be visible only under
Wood’s lamp. Hypo-pigmented patches distributed
along the Blashko lines are present in about 40% of the
owing to the supernumerary 12p is higher (4). Therefore
in patients with dysmorphic features a complete derma-
must be performed.
by Wood’s lamp is advisable when a suggestive pheno-
on skin fibroblasts from hypo-pigmented regions can
confirm the diagnosis.
1. Genevieve D, Cormier-Daire V, Sanlaville D et al. Mild
phenotype in a 15-year-old boy with Pallister–Killian syn-
drome. Am J Med Genet 2003;116A:90–93.
2. Morichon-Delvallez N. Tetrasomie 12p ou syndrome de
able at: http://www.orpha.net/data/pathol/FR/fr-12p.pdf.
3. PKS. Pallister–Killiansyndrome.
dispomim.cgi?id ¼ 601803.
4. Genevieve D, Sznajer Y, Raoul M et al. Clinical overlap of
OFD type IX with Pallister–Killian syndrome (tetrasomy
12p). Am J Med Genet 2003;122A:180–182.
5. FRNS. Fryns syndrome. OMIM database #229850.
Available at: http://www.ncbi.nlm.nih.gov/entrez/dispo-
mim.cgi?id ¼ 229850.
E GUARESCHI, M.D.*
L GARAVELLI, M.D.,? S PEDORI, M.D.?
V DI LERNIA, M.D.,* L GRENZI, M.D.*
F FRANCHI, M.D.,? M MARINELLI, M.D.?
GF CROCI, M.D.,? E PEDRETTI, M.D.§
SERGIO AMARRI, M.D.?
G BANCHINI, M.D.?
GIUSEPPE ALBERTINI, M.D.*
TABLE 1. Cutaneous and Morphologic Features of Pallister–
Streaks of hypo–hyperpigmentation (Wood’s lamp)
Sparse anterior scalp hair
Abnormally high anterior hairline
Short nose with anteverted nostrils
Flat nasal bridge
Long philtrum with thin upper lip
Horizontal palpebral fissures
Figure 1. (A) Classical phenotype of Pallister–Killian syn-
seen on FISH analysis.
*Department of Dermatology, S. Maria Nuova
Hospital, Reggio Emilia, ?Department of Pediatrics,
Clinical Genetic-Unit, S. Maria Nuova Hospital,
Reggio Emilia, ?Laboratory of Genetics, S. Maria
Nuova Hospital, Reggio Emilia, §Department of
Pediatrics, Fiorenzuola Hospital, Piacenza, Italy
NEVUS SEBACEOUS SYNDROME WITH
Abstract: Nevus sebaceous syndrome is a member
of the epidermal nevus syndromes group, and is char-
acterized by extensive nevus sebaceous, seizures, and
mental retardation. We present an affected 5-month-old
boy who had facial hemi-hypertrophy and recurrent
the presence of a sebaceous nevus and extracutaneous
neuroectoderm. Recently, we cared for a 5-month-old
face, and recurrent seizures. To the best of our know-
ledge, this is the first report of this syndrome in West
A 5-month-old boy was referred to our hospital
because of recurrent seizures which began on day 17
of life. The seizures were initially focal, involving the
left side of the body and later became generalized,
lasting about 2–3 minutes. He had a normal twin
sibling and no history of similar abnormalities in his
Examination found a boy weighing 6.19 kg, with a
length of 67 cm. His head circumference was 49 cm.
He had marked facial asymmetry with hypertrophy
of the right half of the face, extending from the
inferior orbital margin down to the submandibular
area (Fig. 1), features which his mother stated had
been present since birth. The right pinna and the
right half of the tongue were also enlarged. He had
skin colored and hyperpigmented plaques which were
waxy in some areas and pebbly in others, following
Blaschko lines on the right side of his face (Fig. 2).
A neurologic examination was normal except for a
mild head lag. He had bilateral optic atrophy.
Cranial computerizedtomography scanrevealed
Figure 2. Sebaceous nevus following Blaschko’s lines on
the right side of the face.
Struttura Complessa di Dermatologia, Arcispedale S. Maria
Nuova, Azienda Ospedaliera, Viale Risorgimento, 80 42100
Reggio Emilia, Italy, or e-mail: firstname.lastname@example.org.
correspondenceto GiuseppeAlbertini, M.D.,
Figure 1. Marked hypertrophy of the right side of the face.
Pediatric Dermatology Vol. 24 No. 4 July⁄August 2007