|Year : 2015 | Volume
| Issue : 3 | Page : 170-172
A case of Goltz syndrome
Marie Eleanore O Nicolas, Paula Karina N Gonzales-Carait
Department of Medicine, Section of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines
|Date of Web Publication||10-Jul-2015|
Paula Karina N Gonzales-Carait
Department of Medicine, Section of Dermatology, University of the Philippines-Philippine General Hospital, Taft Avenue, Manila
Source of Support: Nil, Conflict of Interest: None declared.
Goltz syndrome is a rare genetic X-linked dominant condition in which ectodermal and mesodermal structures – primarily skin, bones, teeth and eyes – are affected in a mosaic pattern. The skin, being the most accessible organ, allows better visualization of this mosaicism. Skin lesions follow the Blaschko’s line and consist of dermal atrophy, telangiectasia, hypopigmentation or hyperpigmentation. Mutation in the PORCN gene is said to cause these defects. A 12-year-old female born with hyperpigmented plaques with areas of atrophy and deformities of the digits (syndactyly and claw-like deformities) consulted due to masses in pharyngeal wall. She also had particular facies, dental anomalies, short stature and umbilical hernia. Skin biopsy revealed hypoplastic dermis with loose collagen bundles and lipocytes in nests insinuating in between the dermis.
Keywords: Focal dermal hypoplasia, Goltz syndrome, mosaicism
|How to cite this article:|
Nicolas ME, Gonzales-Carait PK. A case of Goltz syndrome. Indian J Paediatr Dermatol 2015;16:170-2
| Introduction|| |
A 12-year-old female was born with hyperpigmented plaques with areas of atrophy, syndactyly and ectrodactyly, pharyngeal wall masses and particular facies. Skin biopsy of hypoplastic dermis with loose collagen bundles and lipocytes in nests extending into upper dermis was appreciated.
| Case report|| |
A 12-year-old female presented with dysphagia and linear hyperpigmented patches on the face, trunk and extremities; fusion of the digits of bilateral hands and right feet; and absence of several digits on the left foot since birth. There are no relatives with the similar condition as in the patient. Birth history, immunization history, nutritional history and developmental history were noncontributory.
On physical examination, patient was stunted, wasted, with bilateral low set protruding ears, microcephaly, asymmetry of the lower lip and the nares, multiple dental carries, malocclusion, and crowding of the teeth [Figure 1]. There were tonsillar masses occluding the oropharynx. Patient was also noted to have asymmetry of the breast and protrusion of the umbilicus. She also had syndactyly of right hand (2nd and 3rd digit), left hand (3rd and 4th digits) and right foot (4th and 5th digits) with associated hypoplasia of the nails [Figure 2]. There was also ectrodactyly of the left foot, with fusion of the 4th and 5th digits [Figure 2]. Gynecological examination was normal; there were no masses or papillomas noted.
|Figure 1: Microcephaly, asymmetry of the lower lip and the nares, bilateral low set protruding ears, multiple dental carries, malocclusion, and crowding of the teeth, hypoplasia of teeth and sparse hair on the lateral one-third of the eyebrow of the patient|
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|Figure 2: Ectrodactyly (lobster – claw deformity) of the left foot, with fusion of the 4th and 5th digits. On the right foot, there was also syndactyly of the 3rd and 4th digits. Hypoplasia of nails|
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On dermatologic physical examination, hyperpigmented macules and patches following the Lines of Blaschko More Details were appreciated in the face, trunk and bilateral upper and lower extremities of the patient [Figure 3]. Atrophic areas of the skin following the lines of the Blaschko were also noted, which appeared as white depressed regions. Soft, brown papules overlying the thin atrophic skin on the posterior bilateral thighs were appreciated.
|Figure 3: Bilateral and symmetrical hyperpigmented macules and patches (encircled) with atrophic areas appearing as white depressed lines (red arrows) following the lines of Blaschko in the trunk|
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Transabdominal and transrectal ultrasound showed normal results. Skin biopsy done of atrophic lesions on the patient’s back revealed hypoplastic dermis with loose collagen bundles and nests of adipose tissue extending into upper dermis, consistent with focal dermal hypoplasia [Figure 4].
|Figure 4: Skin biopsy showing hypoplastic dermis with loose collagen bundles with nests of adipose tissue extending into upper dermis|
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| Discussion|| |
Goltz syndrome, also known as focal dermal hypoplasia or Goltz–Gorlin syndrome, is a rare X-linked dominant condition with only 300 cases reported. Lyonization More Details explains the typical mosaic pattern of cutaneous lesions among female patients. It is caused by mutations in the PORCN gene in the chromosome Xp11.23, which leads to defects in the WNT/B-catenin signaling pathway. Because of its importance in the development of skin, craniofacial and long bones, tooth buds and eyes, defects of the WNT signaling pathways causes stimulation of fibroblast proliferation, inhibition of adipogenesis and induction of osteogenesis. This explains the primary features of Goltz syndrome that include dermal hypoplasia as seen in the patient, fat herniations, and osteopathia striata or the streaks of decreased bone density.
Other characteristics of Goltz syndrome were also appreciated in the patient. This includes multiple raspberry papillomas of the skin and mucosal surface; hypoplasia, crowding, longitudinal fissures, and malocclusion of teeth; various hernias; and dysmorphic facies – asymmetrical triangular face, pointed chin, narrow broad nasal tip and unilateral notching of the nasal alae, and thin, protruding and low set ears., The most striking digital abnormality in Goltz syndrome is ectrodactyly, as seen in the patient. Other digital anomalies include syndactyly, polydactyly, and camptodactyly.,
Microphthalmia, Dermal Aplasia and Sclerocornea (MIDAS syndrome), also known as microphthalmia with linear skin defects syndrome, is a rare genetic neurodevelopmental disorder that presents at birth in females. It is a close differential diagnosis given a patient with linear hyperpigmented cutaneous lesions that follow Blaschko’s lines. Skin lesions initially begin as irregular linear erythematous lesions that then become hyperpigmented. However, atrophic lesions and fat herniations are not characteristic of this syndrome. In addition, the other major organ affected in MIDAS syndrome is the eye. Ophthalmologic findings include microphthalmia, chorioretinal abnormalities, and blepharophimosis. The patient in this case had normal opthalmologic findings, hence clinical diagnosis of MIDAS syndrome was not made.
Histopathology is the most specific diagnostic technique for diagnosis of Goltz syndrome. It would show a marked dermal atrophy with disordered connective tissue and decreased collagen bundles and nests of adipose tissue extending into the upper dermis. The hallmark diagnostic skeletal finding is the presence of longitudinal striations or “osteopathia striata” of the bones as seen on X-ray; however, this was not done in the patient due to financial constraints.
Treatment is symptomatic and would involve different specialties from multiple disciplines such as dermatology, orthopedic, ophthalmology, and gynecology. Generally, patients with Goltz syndrome have a good prognosis. They can lead a normal life with normal development. Papillomas, however, should also be monitored because they may become large and cause obstruction.
| Conclusion|| |
Although rare, it is of importance for dermatologists to be familiar with Goltz syndrome, so we can educate the patients with the condition and the possible co-morbidities that it may be associated with.
| References|| |
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]