Hindawi Publishing Corporation
Case Reports in Pediatrics
Volume 2012, Article ID 728509, 3 pages
ACase of Male GoltzSyndrome
Pediatric Medicicne, Calcutta National Medical College and Hospital, Kolkata, India
Correspondence should be addressed to Subhrajit Lahiri, email@example.com
Received 24 June 2012; Accepted 25 September 2012
Academic Editors: N. Arslan and P. Weisleder
Copyright © 2012 Bhaswati Ghoshal et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis charac-
terized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented
with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked
dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.
Focal dermal hypoplasia (FDH) (OMIM #305600) is a mul-
tisystem condition in which developmental defects of the
skin are associated with ocular, dental, and skeletal abnor-
malities. Incidence is likely to be underestimated, as mildly
affected subjects may go unrecognized. It is an X-linked
dominant disorder; although this syndrome is normally
lethal in male patients, approximately 10% of FDH cases are
males, which is believed to be due to mosaicism for postzy-
A 9-year-old male patient presented with asymmetric hypo-
pigmented skin lesions along with progressive dimness of
vision and mental retardation since birth. He was born
normally, weighing 2.7kg after 37 weeks of gestation with
normal perinatal period, out of a nonconsanguineous mar-
riage between phenotypically normal 25-year-old primipara
mother and 30-year-old father. There is no family history
of similar problems. Since birth, the child had a few asym-
metrical linear streaks of atrophy and telangiectasia which
have become hypopigmented streaks that follow Blaschko’s
lines (Figure 1). Raspberry-like papilloma is present in lower
lip (Figure 2). There is generalized dryness of skin and
occasional pruritus. Nails are dystrophic. Hair is sparse and
brittle. He is slender with short stature and microcephaly.
The chin is pointed, and the facial outline is triangular with
protruding ears. Syndactyly and ectrodactyly of both hands
corneal opacity. There is also increased sandal gap The
presence of the lesions from birth and the association of
linear streaks of atrophy and telangiectasia with soft fatty
nodules and malformations of the digits confirm the diag-
nosis. Reconstructive surgery has been planned for reha-
bilitation of the patient.
Goltz syndrome (FDH) involves tissues of ectodermal and
mesenchymal origin. Findings vary from easily overlooked
mild skin atrophy to severe limb deformity as in this case.
Skin involvement has been present in all but 2 cases and is
regarded as essential for the diagnosis .
Skin changes of FDH are the primary diagnostic features.
telangiectasia as in this patient. The cribriform atrophy is
marked by tiny ice pick-like depressions in the skin. These
are distributed along the lines of Blaschko. Areas of thin to
absent dermis are irregularly distributed, and the resultant
herniations of fat appear as yellow-pink excrescence on the
skin surface which are easily depressed.
Papillomas that may be fleshy or vascular develop
inous, and mucosal surfaces, in this case the lip. Papillomas
2 Case Reports in Pediatrics
Figure 1: Hypopigmented streaks that follow Blaschko’s lines.
Figure 2: Raspberry-like papilloma present on lower lip.
Figure 3: Lobster digits.
in airway should be taken care of during intubation needed
for general anaesthesia.
Other dermatologic features include patchy alopecia,
brittle or sparse hair, and palmar and plantar hyperkeratoses.
aplasia cutis congenita, not present in this patient. Among
the nondermatologic features are short stature, slender built,
mental retardation, microcephaly, triangular face, protrud-
sis, syndactyly, polydactyly, ectrodactyly, and facial cleft-
ing. Ocular defects include microphthalmos, anophthalmos,
coloboma, strabismus, keratoconus, and corneal opacifica-
tion. Intestinal malrotation and mediastinal dextroposition
have been described in association with FDH .
Osteopathic stria may be found in radiogram of bones
apart from giant cell tumors and osteochondromas. The
diagnosis of FDH is relatively straightforward. Cribriform
atrophy has been described in X-linked dominant Conradi-
Hunermann syndrome (chondrodysplasia punctata), but
ichthyosis is not a feature of FDH, and fat herniation is not
part of Conradi-Hunermann. The streaky distribution of the
atrophic lesions of incontinentia pigmenti (IP) is similar,
as are the other system malformations, but the blistering,
hyperkeratosis, and hyperpigmentation of IP are not found
in FDH. In MIDAS syndrome (microphthalmia, dermal
aplasia, and sclerocornea), the skin defects are limited to the
head and neck; there is atrophy and scarring of the skin more
similar to aplasia cutis congenita and not dermal atrophy
alone. The disorders do share similar ocular abnormalities.
The causative gene in this disorder has been identified
as PORCN on chromosome Xp11.23 . This is thought to
encode an O-acetyltransferase involved in Wnt signaling
which is important in ectodermal-mesodermal development
during embryogenesis. To date, over 70 different mutations
patients . A number of mutation-negative female patients
Case Reports in Pediatrics3 Download full-text
of genetic heterogeneity in this condition, or of mutations
outside of the coding region . Goltz syndrome in male
patients is thought to result from somatic mosaicism; we
believe this to be the case in our patient as well.
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