Pediatric Dermatology Vol. 28 No.

6 715–719, 2011

Phacomatosis Pigmentokeratotica: A Further

Case without Extracutaneous Anomalies and
Review of the Condition
Rattanavalai Chantorn, M.D.,*,  and Tor Shwayder, M.D. 
*Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok Thailand,  Department of Dermatology,
Henry Ford Hospital, Detroit, Michigan

Abstract: Epidermal nevus syndrome is the term for the association of

an epidermal nevus and extracutaneous anomalies, including neurologic,
ophthalmic, and skeletal defects. Epidermal nevus syndromes include
different disorders that share the feature of mosaicism. Phacomatosis
pigmentokeratotica (PPK) is a distinctive new epidermal nevus syndrome
first described in 1996 characterized by the presence of multiple organoid
nevi with sebaceous differentiation, a speckled lentiginous nevus, and
skeletal and neurologic abnormalities. Only a handful of cases of PPK
without extracutaneous manifestations have been reported. We report here
an individual with PPK with only cutaneous signs and confirm this dis-
tinctive syndrome has two subtypes according to the presence or absence of
extracutaneous involvement.

Happle et al (1) first proposed the term ‘‘phacoma-
tosis pigmentokeratotica’’ (PPK), which is characterized
by the cooccurrence of organoid nevus with sebaceous
differentiation arranged along Blaschko’s lines, and
speckled lentiginous nevus (SLN) of the papular type
(papular nevus spilus) arranged in a checkerboard pat-
tern (2). Phacomatosis pigmentokeratotica is divided
into two subgroups according to the presence or absence
of extracutaneous involvements. Happle (3) explained
that this syndrome represented an example of the genetic
mechanism didymosis, or twin spotting. The two com-
ponents of this twin spot phenomenon have been iden-
tified as Schimmelpennning syndrome and SLN
syndrome. The occurrence of a neoplasm arising in nevus
sebaceous such as basal cell carcinoma (4) and papular
nevus spilus such as malignant melanoma (4) has been
reported. Approximately 30 cases of PPK have been
reported. Seven of all reported cases have no systemic
abnormalities described (5–8). We report an 18-year-old
woman with unilateral papular nevus spilus with Spit-
zoid features associated with ipsilateral congenital nevus
sebaceous and contralateral linear epidermal nevus.
There have not been extracutaneous anomalies or
malignant transformation detected during our 18-year
follow-up of this patient.
CASE REPORT
A healthy 18-year-old white woman was born with a
giant yellow–orange plaque involving the left side of her
scalp and face extending to the ear and posterior neck
(Fig. 1), along with involvement of the right side of her

Address correspondence to Tor Shwayder, M.D., Director,

Department of Dermatology, Henry Ford Hospital, Detroit MI
48202, or e-mail: TShwayd1@hfhs.org.

DOI: 10.1111/j.1525-1470.2011.01655.x

 2011 Wiley Periodicals, Inc. 715

716 Pediatric Dermatology Vol. 28 No. 6 November ⁄ December 2011
tongue (Fig. 2). Biopsy of the occiput at age 26 days
demonstrated compact hyperkeratosis, mild acanthosis,
and spongiosis in epidermis. The underlying dermis
showed scattered small but mature-appearing sebaceous
lobules. These findings were consistent with nevus seba-
ceous. At 15 months of age, biopsies of the scalp, fore-
head, preauricular area, and neck (from an outside
dermatologist) revealed epidermal verrucous hyperplasia
with acanthosis and papillomatosis; focal hyperplasia of
the sebaceous glands was also noted. These biopsies were
Figure 1. The patient at 6 months old. Note giant yellow–
orange plaque involving the left side of her scalp and face
extending to the ear and posterior neck.
Figure 2. Irregular plaque on the right side of her tongue.
compatible with epidermal nevus with sebaceous differ-
entiation. She also had a few spots of brownish papules
on her left shoulder noted when she was 2 years old. She
has had numerous operations involving staged excisions
of nevus sebaceous on her scalp as well as tissue
expanders over the first few years of life. This patient was
lost to follow-up and return to the dermatology clinic
when she was 13 years old. Over the past several years,
numerous scattered asymptomatic spots have developed
over her left upper back, shoulder, arm, and dorsal hand.
These spots have been in different in size and color. She
has been otherwise healthy. No systemic involvement
has been detected so far.
Physical examination disclosed a large confluent
brown verrucous plaque with waxy filiform projections
on the entire surface of the left ear and in the postauric-
ular area and upper neck region (Fig. 3A and B). In a
confluent distribution involving the left upper midback
all the way down her left shoulder and her left arm and
dorsal hand are multiple well-circumscribed, scattered
brown macules and papules, together with some scat-
tered pink–red and blue papules (Fig. 4A and B). Under
a Wood’s lamp, examination of the left upper back re-
vealed a subtle hyperpigmented background with over-
lying speckled brown and black dots clinically consistent
with a SLN of the papular type. These are ipsilateral to
the nevus sebaceous. Extending to the midline on the
patient’s chest is a linear cluster of brown verrucous
papules. On the right side of the tongue, there are irreg-
ular plaques the same color as her tongue that end
directly at the midline. Ocular, skeletal, and neurologic
examinations are all normal.
At the follow-up visits, biopsies were done on some
different morphologic pigmented lesions (red papule,
red–blue papule, and blue papule) diagnosed as Spitz
nevus and compound and intradermal nevus with Spit-
zoid features (Fig. 5). Basically for aesthetic reasons the
patient underwent surgery of multiple sites. The scalp
had multiple staged excisions which was complicated by
wound separation and scar formation. The plastic sur-
geons also tried Candela V-beam laser treatment of the
epidermal nevus with some improvement. She has been
monitored for extracutaneous manifestations and
malignant transformation of the remaining nevus seba-
ceous and SLN.
DISCUSSION
The association of a SLN and nevus sebaceous is a
diagnostic clue tp PPK (9). This distinctive syndrome
has been hypothesized to be due to so-called didymosis,
also known as the twin spot phenomenon. Half of PPK
would be Schimmelpenning syndrome, and the other
 Chantorn et al: PPK without Extracutaneous Anomalies 717

A B

Figure 3. (A) Fourteen years old. Note nevus sebaceous around the ear, epidermal nevus along the sternum, and multiple
acquired and Spitz nevi on pigmented base on the left shoulder and arm. (B) Eighteen years old. Note the remaining epidermal
nevus with sebaceous differentiation and papular nevus spilus.

A B

Figure 4. (A) Fourteen years old. Multiple scattered brown, pink–red, and blue macules and papules over the left shoulder and
upper midback. (B) Eighteen years old. Note marked increase in number of unusual nevi.

half would be SLN syndrome. The twin-spotting phe-

Figure 5. Biopsy from left arm papule at 13 showing sym-
metric nests of vertically oriented melanocytic cells with
minimal atypia in the epidermis and superficial dermis con-
sistent with compound nevus with Spitzoid features.
nomenon is a well-known mechanism extensively
studied in plants and animals and recently proposed to
occur in human skin. It has been hypothesized that co-
occurrence of the two different nevi represents this twin
spotting. These twin spots are paired patches of mutant
tissue that are dissimilar from each other and from the
background tissue (1). To impute ‘‘twin spotting,’’ it is
necessary for the two different recessive mutations to be
located on the same chromosome. The chromosomes
bearing these loci would then be exchanged through
somatic crossing over in the early stages of embryo-
genesis, giving rise to two different homologous
daughter cells that evolve into two different mosaic
lesions (3). In addition to PPK, this phenomenon is
hypothesized to be a genetic mechanism in vascular
twin nevi and phacomatosis pigmentovascularis.
Schimmelpenning syndrome is defined as the asso-
ciation of the linear nevus sebaceous arranged along the
718 Pediatric Dermatology Vol. 28 No. 6 November ⁄ December 2011
Blaschko lines and extracutaneous involvement. This
syndrome can be variable in symptoms and extracuta-
neous manifestations. The common extracutaneous
features include skeletal defects, neurologic defects such
as hemimegalencephaly with contralateral motor dis-
ease, and ocular abnormalities, including coloboma and
epibulbar lipodermoid (9). Skeletal defects in this syn-
drome include bone cysts, kyphosis and scoliosis, foot
and hand deformities, craniofacial defects, dislocation
of hip hemihypertrophy, and vitamin D–resistant
rickets (9,10). Ocular anomalies include coloboma,
lipodermoid of the conjunctiva, nystagmus, corneal
opacity, defects of the optic nerve, and cortical blindness
(9,10). Additional neurologic features are mental and
cognitive deficiency; seizure; hydrocephalus; Dandy-
Walker malformation; dysplasia of brain vessels; agen-
esis of the corpus callosum; cerebral heterotropia; and
cortical agyria, microgyria, or pachygyria (9,10).
Happle (10) has recently described sSLN syndrome,
which is defined as a SLN and ipsilateral neurological
defects. SLN, or nevus spilus, consists of a café-au-lait
macule with multiple dark brown or black dots that
represent macular or papular proliferations of melano-
cytes superimposed (10). It has been proposed that it be
further categorized into two subtypes: macular and
papular (11). Papular SLN may occur as an isolated
lesion or as a component of PPK, whereas macular SLN
may occur as an isolated birthmark or as a component
of phacomatosis pigmentovascularis type III (phaco-
matosis spilorosea). Neurologic abnormalities associated
with SLN syndrome are hyperhidrosis, muscular weak-
ness, dysesthesia, sensory and motor neuropathy, nerve
palsy with thinning of nerves, and spinal muscular
atrophy with fasciculation (10).
Phacomatosis pigmentokeratotica is a distinct type of
epidermal nevus syndrome. Because most of these syn-
dromes occur sporadically, Happle suggested that they
reflect mosaicism generated by lethal genes that survive
in a mosaic state only (3). PPK is limited to the skin
or associated with extracutaneous abnormalities. The
pattern of extracutaneous anomalies reported in PPK
represents the variable features of Schimmelpenning
syndrome SLN syndrome. In particular, neurologic de-
fects appear to be a typical component of this syndrome,
and can in some cases develop later in life. The major
neurologic abnormalities in PPK are mental deficiency,
seizures, hemiparesis, hyperhidrosis, cutaneous
dysesthesia, muscular weakness, sensory neuropathy,
and motor neuropathy. Additional extracutaneous
presentations have been reported in the literature, such as
ptosis, strabismus, congenital glaucoma, esotropia,
conductive hearing loss, facial dysmorphism, hemiatro-
phy, kyphosis and scoliosis, abnormal electroencepha-
logram, and hypophosphatemic vitamin D–resistant
rickets (1,2,6,9). Happle et al reported the significant
associations between PPK and urologic, renal, and vas-
cular defects (12). Three cases of PPK have been reported
associated with arterial hypertension (12–14). Extrinsic
compression of the renal artery by a spinal root tumor
caused one (13), one resulted from aortic stenosis and
renal artery stenosis (14), and the other one is from
spindly renal artery (12). Skin and internal malignancies
are considered a risk in PPK. These often occur on the
skin and included basal cell carcinoma and malignant
melanoma (4,5), although extracutaneous neoplasms
have been described, such as subcutaneous rhabdo-
myosarcoma (15) and pheochromocytoma (12). In
addition, urologic and renal abnormalities have been
reported, including rhabdomyosarcoma of the bladder
and nephroblastoma (12).
One difference between PPK and Schimmelpenning
syndrome, is that coloboma and epibulbar lipodermoid
are observed in Schimmelpenning syndrome and not in
PPK (9). The epidermal nevi with sebaceous differenti-
ation in PPK have greater potential to develop true basal
cell carcinoma than in Schimmelpenning syndrome (9).
Furthermore, PPK cases appear to develop hypophos-
phatemic vitamin D–resistant rickets at a higher rate
than observed in Schimmelpenning syndrome (9).
In summary, we have reported another case of a rare
distinct epidermal nevus syndrome, called PPK, and we
hope that other physicians will recognize this unusual
syndrome. Our patient thus far had no extracutaneous
features or malignant degeneration, however, extracu-
taneous involvements reported in the literature indicate
that we should monitor such patients carefully. Because
of significant association of neurologic, renal, and vas-
cular abnormalities in PPK, complete physical exami-
nation including blood pressure monitoring and
neurologic examinations should be done, and investiga-
tions performed if further abnormalities are detected.
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