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CASE REPORT
Year : 2016  |  Volume : 17  |  Issue : 4  |  Page : 303-305

Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy


1 Department of Skin and VD, SCBMCH, Cuttack, Odisha, India
2 Department of Skin and VD, Hitech MCH, Bhubaneswar, Odisha, India

Date of Web Publication7-Oct-2016

Correspondence Address:
Bharati Sahu
Niki Skin Care, Anadi Bhaban, Ranihat, Cuttack - 753 001, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.184426

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  Abstract 

Goltz syndrome, also known as focal dermal hypoplasia, is a rare genodermatosis. It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental, and skeletal defects. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. We report a case of a 7-month-old female child with typical clinical features of Goltz syndrome with some unusual findings such as severe abdominal dehiscence, bladder exstrophy, and absence of the fifth metacarpal and distal phalanx.

Keywords: Bladder exstrophy, Goltz syndrome, osteopathia striata, syndactyly


How to cite this article:
Sahu B, Samal SR, Mohanty P, Puhan MR. Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy. Indian J Paediatr Dermatol 2016;17:303-5

How to cite this URL:
Sahu B, Samal SR, Mohanty P, Puhan MR. Goltz syndrome with absence of fifth metacarpal and distal phalanx, severe abdominal dehiscence and bladder exstrophy. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Oct 20];17:303-5. Available from: http://www.ijpd.in/text.asp?2016/17/4/303/184426


  Introduction Top


Goltz syndrome, also known as focal dermal hypoplasia (FDH) is a rare genodermatosis with multisystem involvement. It is an X-linked dominant disorder with high male lethality.[1] Pathogenic mutations in the PORCN gene (locusXp11.23) is the molecular basis of Goltz syndrome.[2] It was first described by Liebermann as atrophoderma linearis maculosa et papillomatosis congenitalis.[3] Subsequently in 1962, Goltz et al. reported three cases of FDH and distinguished them as separate entities.[4] There are about 100 cases described in the literature but only a few cases from India. We describe a rare case of Goltz syndrome with the presence of some unusual features such as severe abdominal dehiscence, bladder exstrophy, and absence of fifth metacarpal and distal phalanx.


  Case Report Top


A 7-month-old female child born out of nonconsanguineous marriage presented to the outpatient department for multiple hypopigmented skin lesions on the trunk and extremities since birth. She was delivered normally with no untoward perinatal event. Her 3-year-old brother was normal. She did not have any developmental delay.

Cutaneous examination revealed multiple hypopigmented atrophic linear macules of varying size with fat herniation present over trunk, thigh, gluteal region, and upper and lower limbs along the lines of blaschko [Figure 1]a. The abdominal wall was extremely thin with bulged out intra-abdominal organ and visible intestinal coils. The urinary bladder was protruded out (exstrophy) with widely separated symphysis pubis [Figure 1]b She had facial asymmetry in the form of a triangular facial outline, a broad nasal tip, notching of ala nasi, low-set ear, and a pointed chin [Figure 2]a. There was syndactyly and lobster claw deformity of the right hand [Figure 2]b. Hypoplasia of few nails was also present [Figure 2]c. Oral mucosa and hairs were normal.
Figure 1: (a) Multiple hypopigmented atrophic linear macules with fat herniation along the lines of blaschko, (b) extremely thin abdominal wall with bulged out intra-abdominal organ and bladder exstrophy

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Figure 2: (a) Facial asymmetry with a broad nasal tip, notching of ala nasi, low set ear and a pointed chin, (b) syndactily and lobster claw deformity, (c) nail hypoplasia

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Systemic examination was normal. Complete hemogram and serum chemistry profile were normal. Ultrasonography abdomen and pelvis showed no abnormalities except the abdominal wall defect with omphalocele and bladder exstrophy. Ophthalmological examination and computed tomography scan of the brain were normal. However, her parents did not consent for a skin biopsy. Radiological examination showed the features of osteopathia striata in the form of linear translucent lines at the metaphyses of the lower end of the femur [Figure 3]a. Syndactyly, soft tissue fusion, absent fifth metacarpal, and distal phalanx of right hand [Figure 3]b and short radius in the left hand [Figure 3]c. Based on the clinical presentation and characteristic skeletal abnormalities, a diagnosis of Goltz syndrome was made. The patient was referred first to pediatric surgeon for correction of omphalocele and bladder exstrophy and then referred for gene sequence analysis and genetic counseling of parents.
Figure 3: (a) Osteopathia striata at the lower end of the femur, (b) absent fifth metacarpal and distal phalanx, (c) short radius

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  Discussion Top


Goltz syndrome is characterized by multisystem abnormalities involving skin, bone, nails, hair, limbs, teeth, eyes, gastrointestinal, cardiovascular, and central nervous systems. Skin involvement is considered as essential for the diagnosis of Goltz syndrome, and most of the cutaneous manifestations were seen in this case.

Skeletal defects are second most common extracutaneous abnormalities, seen in 80% of the patients [5] that include asymmetrical involvement of hands and feet with syndactyly, polydactyly, or clinodactyly, the absence of part of long bones. Vertebral anomalies may be seen as scoliosis, kyphosis, vertebral body fusions, and spina bifida. Many patients have short stature, and one side of the face or body may be underdeveloped. The facial appearance is often very characteristic. This includes asymmetry, pointed chin, maxillary hypoplasia, broad nasal tip and narrow bridge, cleft lip, cleft palate, and protruding and thin ears.[6] In our case, facial asymmetry with, unilateral notching of ala nasi, low-set ears, broad nasal tip were present along with characteristic osteopathia striata of long bones and short radius. Unusual features like absent fifth metacarpal and distal phalanx were also found in our case. Ocular anomalies include coloboma of iris, retina, and globe; microphthalmia, anophthalmia, lacrimal duct anomalies as well as ocular muscles and corneal anomalies.[5],[6] fortunately, our case did not have any ocular abnormalities.

Occasionally, some anomalies such as joint hypermobility, mental retardation, hearing defects, microcephaly, horseshoe kidneys, umbilical, inguinal, epigastric or diaphragmatic hernias, malrotation of the gut, duodenal atresia, cleft lip/palate and congenital heart diseases like truncus arteriosus are seen in Goltz syndrome.[7],[8] Because of pleomorphism, all features may not present in a single case. Our case had a rare finding of severe abdominal wall defect with a large omphalocele. Bladder exstrophy was present in our case, which is also a very uncommon finding.

The distinctive presentation usually assists in making a straightforward clinical diagnosis even in the absence of mutation analysis (which is often not available everywhere). This condition has to be differentiated from incontinentia pigmenti, epidermal naevi, aplasia cutis congenita, and MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea) on the basis of clinical features. There is no effective treatment for this disease, and it requires a multidisciplinary approach. Patients have a normal life span. Surgical correction of deformities can be considered, and genetic counseling should be given to parents.[9]

Our patient had all the typical features of Goltz syndrome with multiple skeletal abnormalities. The unusual finding noted were absence of fifth metacarpal and distal phalanx and severe abdominal dehiscence with bladder exstrophy.

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

Nil.

Conflicts of Interest

There are no conflicts of interest.

 
  References Top

1.
Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol 1992;128:1108-11.  Back to cited text no. 1
    
2.
Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007;39:836-8.  Back to cited text no. 2
    
3.
Liebermann S. Atrophoderma linearis maculosa et papillomatosis congenitalis. Acta Derm Venereol (Stock) 1935;16:476-84.  Back to cited text no. 3
    
4.
Goltz RW, Peterson WC Jr., Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708-17.  Back to cited text no. 4
    
5.
Hall EH, Terezhalmy GT. Focal dermal hypoplasia syndrome. Case report and literature review. J Am Acad Dermatol 1983;9:443-51.  Back to cited text no. 5
    
6.
Bharani S, Thakkar S. A case report of focal dermal hypoplasia-Goltz syndrome. Indian Dermatol Online J 2013;4:241-3.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
7.
Patel JS, Maher ER, Charles AK. Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. Clin Dysmorphol 1997;6:267-72.  Back to cited text no. 7
    
8.
Han XY, Wu SS, Conway DH, Pawel BR, Punnett HH, Martin RA, et al. Truncus arteriosus and other lethal internal anomalies in Goltz syndrome. Am J Med Genet 2000;90:45-8.  Back to cited text no. 8
    
9.
Srinivas SM, Hiremagalore R. Focal dermal hypoplasia: A rare case report. Indian J Dermatol 2015;60:106.  Back to cited text no. 9
[PUBMED]  Medknow Journal  


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  [Figure 1], [Figure 2], [Figure 3]



 

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