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Gupta, Bandyopadhyay, and Bhargava: A rare case report of Goltz syndrome and review of literature


Introduction

Goltz syndrome (focal d ermal hypoplasia) is an X-linked dominant disorder of mesodermal and ectodermal tissue, more commonly seen in females.1 It is usually lethal in the other gender, although reports of alive males have been seen probably due to sporadic mutations or mosaicism.2,3 It has been also described as atrophoderma linearis maculosa et papillomatosis congenitalis by Leibermann.4 PORCN gene on chromosome Xp11.23 loci has been identified as the causative defect,5,6,7 encoding an O- acyltransferase enzyme in Wnt signalling which ultimately is involved in ectodermal – mesodermal development. Heterozygous deletions of PORCN gene is mostly documented, although nonsense, missense and splice site mutations have also been implicated.5,7,8,9 There have been very few cases reported from Eastern part of India.

Case Report

An 18-day-old baby girl, term, born of consanguineous parentage, presented with hypopigmented and pinkish macules, papules and plaques on the, face, arm, trunk and lower extremities since birth. (Figure 1,Figure 2) Small pinkish red elevated lesions were distributed over lower limbs. She had abnormalities of limbs right from birth, it was noticeable that the right side was smaller. There was no history of unusual drug intake by mother and perinatal history was uneventful. None of the family members of the child had similar symptoms.

General examination revealed megalopinna and a pointed chin with notched alaenasi. On cutaneous examination we found multiple atrophic hypopigmented lesions arranged linearly or in group along lines of Blaschko on the arm extending to trunk, thighs, gluteal region, genitalia and over both upper and lower limbs. (Figure 3) On lower limbs, reddish, atrophic and hypopigmented lesions with interspersed hyperpigmented hyperkeratotic lesions were noted along with soft papular lesions. Syndactyly of 2nd and 3rd digits of both hands with single digit right toe were noted. (Figure 4) Ophthalmic examination revealed right sided microcornea and microphthalmia, systemic examination revealed no abnormality. Routine blood counts and serum biochemistry were non-contributory. X- ray showed hypoplastic right clavicle with fusion of T4-T5 vertebrae. (Figure 5 ) Histopathological examination showed atrophy of the dermis which is marked in the initial presentation of the disorder. (Figure 6)

Figure 1
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Figure 2
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Figure 3
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Figure 4
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Figure 5
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Figure 6
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Discussion

Focal dermal hypoplasia (FDH) or Goltz syndrome is a meso- ectodermal disorder which has X-linked dominant inheritance. Newborns usually present with erythematous, hypopigmented, or depigmented atrophic macules, most commonly on thighs, buttocks and trunk, arranged in either Blaschkoid or reticulate pattern. In very few cases, even blisters or erosions may be present at birth that may leave behind atrophic scars, thus mimicking incontinentia pigmenti.10 The hallmark of FDH is the thinning of the dermis resulting in depressed linear lesions with herniation of subcutaneous fat. This fat classically presents as soft, pinkish yellow to brown nodules in the popliteal and cubital fossa. Occasionally raspberry-like papillomas may be present on the lips, perineum, fingers, toes, ears, buccal mucosa and oesophagus.11 Pruritus, hyperkeratosis of palms and soles, photosensitivity, xerosis, dermatoglyphic changes, sweating abnormalities, sparse hair, absent or dystrophic nails also have been reported.12

Later in life, several dental abnormalities may occur in the forms of hypodontia, micro dontia and malocclusion and enamel hypoplasia.13 Skeletal defects include hypoplasia of the digits, syndactyly, polydactyly, ectrodactyly and vertebral abnormalities such as kyphosis, scoliosis, and vertebral body fusions. Spina bifida has been re ported in upto 60- 70% patients of FDH. A pathognomonic finding is the lobster claw deformity seen in this disorder.14 Long bones have typical findings in their m etaphyses, they have fine, parallel, vertical, radio-opaque stripes striations which are known as osteopathia striata.

Characteristic facial features comprise rounded and small skull, pointed chin with triangular facial outline. Asymmetry has been noted in alaenasi, face, trunk and limbs. Ocular abnormalities include microcornea, microphthalmia and colobomas. Other general observations which are commonly noted consist of short stature, mental retardation, hearing loss, microcephaly, cleft lip and palate. Gastrointestinal defects can be duodenal atresia, intestinal malrotation, hernias like umbilical, inguinal, epigastric or diaphragmatic.15 Other organ abnormalities include bicornuate uterus, cardiac defects like patent ductus arteriosus and ventricular septal defect, hypoplasia of lungs, horseshoe kidneys, hypoplastic kidney or absent kidney, bilateral hydronephrosis and hydroureter. Rare cases of absent nipples and supernumerary nipples have also been reported.10,14

The morbidity and mortality of FDH depends on the extent and severity of organ involvement. Most of the internal organ affections in the syndrome are present at birth and usually remain unchanged. Although many severely affected babies die in infancy, the prognosis is generally good and most children live to adulthood.

Regular follow up is needed for early detection and timely preventative and/or corrective treatment of organ involvement in FDH patients. Treatment with a flashlamp-pumped pulse dye laser has shown to improve the clinical appearance of the telangiectatic and erythematous skin lesions.16

Conclusion

Goltz syndrome is a very rare disorder and its prevalence is very low in this region of world, it has been reported due to its rarity.

Conflicts of interest

None.

Source of Funding

None.

References

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Y C Giam B P Khoo What syndrome is this? Focal dermal hypoplasia (Goltz syndrome)Pediatr Dermatol1998155399402

2 

A L Lasocki Z Stark D Orchard A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patientAustralas J Dermatol20115214851

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A Jain R Chander T Garg G S Nikita Shetty A rare multisystem disorder: Goltz syndrome-case report and brief overviewDermatol Online J20101662

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R W Goltz Focal dermal hypoplasia syndrome: An updateArch Dermatol1992128811081111

5 

X Wang V Reid-Sutton J Omar-Peraza-Llanes Z Yu R Rosetta Y C Kou Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasiaNat Genet2007397836838

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- Paller Wnt signaling in focal dermal hypoplasiaNat Genet2007397820821

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P Leoyklang K Suphapeetiporn S Wananukul V Shotelersuk Three novel mutation in the PORCN gene underlying focal dermal hypoplasiaClin Genet2008734373379

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K-H Grzeschik D Bornholdt F Oeffner A Knig M Del Carmen Boente H Enders Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaNat Genet2007397833835

9 

S E Clements V Wessagowit J E Lai-Cheong K Arita J A Mcgrath Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN geneJ Dermatol Sci20084913942

10 

S M Srinivas R Hiremagalore Focal Dermal Hypoplasia: A Rare Case ReportIndian J Dermatol2015601106

11 

L Zala C Ettlin A Krebs Fokale dermale Hypoplasie mit Keratokonus, Osophagus papillomaen und HidrokystomenDermatol19751503176185

12 

I K Temple P Macdowall M Baraitser D J Atherton Focal dermal hypoplasia (Goltz syndromeJ Med Genet1990273180187

13 

A M Baxter M J Shaw K Warren Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome)Br Dent J 200018910550553

14 

N Riyaz A Riyaz R Chandran S V Rakesh Focal dermal hypoplasia (Goltz syndrome)Br Dent J200018910550553

15 

A D Irvine F J Stewart E A Bingham N C Nevin V E Boston Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextropositionAm J Med Genet1996623213215

16 

T S Alster F Wilson Treatment of cutaneous lesions with 585-nm flashlamp-plumed pulsed dye laserArch Dematol19951312143144Focal dermal hypoplasia (Goltzs syndrome)



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