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Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 531-532

Goltz syndrome in male: A rare case of focal dermal hypoplasia

1 Department of Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India
2 Intern, Kasturba Medical College, Manipal, Karnataka, India

Date of Submission30-Sep-2022
Date of Acceptance21-Nov-2022
Date of Web Publication28-Apr-2023

Correspondence Address:
Neha Kumari
Flat No. 105, Sona Place, Near Mangal Market, Sheikpura, Bailey Road, Patna - 800 014, Bihar
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_2509_22

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Goltz syndrome or focal dermal hypoplasia is a rare meso-ectodermal, X-linked dominant genetic disorder with female preponderance. Though the involvement of multiple systems is present, the hallmark of this syndrome is typical cutaneous features. Here, we report a unique case of Goltz syndrome in a 21-year-old male who presented to us with multiple growths on the palpebral conjunctiva of the right eye along with abnormal ice pick–type lesions on the skin. No significant family history was present. The affected eye also had iris and choroidal coloboma. Mild mental retardation and gingival hyperplasia were noted on systemic examination. Being a multisystem disorder, an ophthalmologist should be aware of its extraocular manifestations that can be fatal.

Keywords: Coloboma, focal dermal hypoplasia, Goltz syndrome, papilloma

How to cite this article:
Kumari N, Bhaskar G, Sinha BP, Anmol K. Goltz syndrome in male: A rare case of focal dermal hypoplasia. Indian J Ophthalmol Case Rep 2023;3:531-2

How to cite this URL:
Kumari N, Bhaskar G, Sinha BP, Anmol K. Goltz syndrome in male: A rare case of focal dermal hypoplasia. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 5];3:531-2. Available from: https://www.ijoreports.in/text.asp?2023/3/2/531/374945

Goltz syndrome is a rare X-linked dominant disorder found in women associated with mutation of porcupine O-acyltransferase (PORCN) gene at Xp11.23 locus. It is generally lethal in males in utero but few survive due to fresh mutation.[1],[2],[3] It was first described by Goltz in 1962 with a report of three girls.[4] Approximately only 400 cases of Goltz syndrome have been reported till now from the whole world.[5]

  Case Report Top

A 21-year-old man born out of non-consanguineous marriage reported to our tertiary care center with chief complaint of painless mass growing out from the conjunctiva near the inner canthus of the right eye. Drug intake history during the intranatal period along with a prior history of miscarriage or stillbirth was absent in the mother. Family history of similar disorder was also absent.

The patient's face shape was triangular with wide alae nasi and depressed nasal bridge [Figure 1]a. On ocular examination, two pedunculated masses arising from the conjunctiva near the medial canthus and palpebral conjunctiva of the lower eyelid of the right eye was observed [Figure 1]b and [Figure 1]c. Further examination of the patient revealed that he also had iris and choroidal coloboma of the same eye [Figure 1]d. But the other eye inspection revealed no abnormality.
Figure 1: (a) Face photograph, (b and c) slit lamp photograph, (d) fundus photograph of the right eye

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He had hypopigmented and atrophic lesions on his face and abdomen following line of Blaschko with fat herniation on nose and ice pick–type lesions on the palm. The skin biopsy showed atrophic epidermis and hypoplastic dermis with fat herniation.

Systemic examination revealed no other abnormality. Ultrasound of the abdomen, chest X- ray posteroanterior (PA) view, and echocardiography were within normal limits. However, the patient had mild mental retardation and gingival hyperplasia.

The two masses relatively of size 11 × 5 mm and 12 × 5 mm were excised. On histopathological examination, the masses were found to be composed of finger-like projections lined by acanthotic stratified squamous epithelium with a fibrovascular core. The features were suggestive of conjunctival squamous papilloma [Figure 2].
Figure 2: Histopathology photograph showing finger-like projections with fibrovascular core (marked with a star)

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  Discussion Top

Though the name “Focal Dermal Hyperplasia” reveals the involvement of only skin, all three layers, that is, the ectoderm, mesoderm, and endoderm, are involved. But the severity depends on the expression of the porcupine O-acyltransferase (PORCN) gene located on chromosome Xp11.23. The mutation in PORCN gene affects the Wnt/β-catenin signalling pathway. The Wnt signalling pathway plays a role in fibroblast proliferation, adipogenesis inhibition, and osteogenesis induction. Only 10% of affected individuals are men who survive due to postzygotic mosaicism.[3]

The predominant cutaneous features are atrophy, linear or reticulate along the line of Blaschko, hypo- or hyperpigmented skin lesions, herniation of fat, telangiectasia and mucocutaneous papilloma, and tiny ice pick–like depression. Lyonization is regarded as the cause for the typical pattern observed on the skin. Other less common features include hyper or hypo hidrosis, lack of hair, brittle scalp hair, and aplasia cutis congenita. Nail changes include dysplasia, nicking, and ridging.

General features are microcephaly, triangular face, protruding ear, asymmetrical alae nasi, cleft lip, cleft palate, joint hypermobility, and mental retardation.

Ocular anomalies include anophthalmia or microphthalmia, iris and/or chorioretinal colobomas, cataracts, papilloma, strabismus, keratoconus, blocked lacrimal duct, ectopia lentis, and corneal opacification. The lid and conjunctival papilloma are the least common ophthalmic manifestations of Goltz syndrome.[6]

The systemic presentation of Goltz syndrome includes dental anomalies such as hypodontia, oligodontia, microdontia, malocclusion, crowding, longitudinal fissures, dysplasia, and retarded eruption and the skeletal abnormalities include syndactyly, polydactyly, ectrodactyly, kyphoscoliosis, spina bifida occulta, osteopathic stria, and clavicular dysplasia.

Other systemic abnormalities may include congenital heart disease, mediastinal dextroposition, intestinal malrotation, duodenal atresia, horse shoe kidney, ectopic kidney, inguinal, umbilical, epigastric or diaphragmatic hernia, and hearing defects.

Though it can be confused with microphthalmia with linear skin defects (MLS) syndrome, incontinentia pigmenti, and Rothmund–Thomson syndrome, in MLS syndrome the main features are microphthalmia and sclerocornea, and in incontinentia pigmenti typical skin lesions are present with retinal detachment following retinal neovascularization; Rothmund – Thomson syndrome presents with poikiloderma and cataract. Thus, due to the unique features described above, Goltz syndrome was easily differentiated from the above-mentioned syndromes.[7]

Treatment is mainly symptomatic and involve multiple specialties. The prognosis is good and the patient has nearly normal life span.


The genetic testing of the patient could not be performed.

  Conclusion Top

To avoid fatal complications, a multidisciplinary approach is needed to diagnose and treat the patient. Finally, genetic counseling is necessary to stop further transmission in progeny.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Wettke-Schäfer R, Kantner G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet 1983;64:1-23.  Back to cited text no. 1
Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 2007;39:833-5.  Back to cited text no. 2
Bornholdt D, Oeffner F, Konig A, Happle R, Alanay Y, Ascherman J, et al. PORCN mutations in focal dermal hypoplasia: Coping with lethality. Hum Mutat 2009;30:E618-28.  Back to cited text no. 3
Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708-17.  Back to cited text no. 4
Frisk S, Grandpeix-Guyodo C, Popovic Silwerfeldt K, Hjartarson HT, Chatzianastassiou D, Magnusson I, et al. Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Clin Case Rep 2018;6:2103.  Back to cited text no. 5
Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. Am J Med Genet C Semin Med Genet 2016;172C: 59-63.  Back to cited text no. 6
Sanchez-Valle A, Sutton VR, van den Veyver IB. Focal dermal hypoplasia. Harper's Textbook of Pediatric Dermatology. 3rd ed. Vol 2. Wiley-Blackwell; 2016. p. 1-9.  Back to cited text no. 7


  [Figure 1], [Figure 2]


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