| Abstract|| |
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome.
Keywords: Focal dermal hypoplasia, Goltz syndrome, lobster-claw hand
|How to cite this article:|
Srinivas SM, Hiremagalore R. Focal dermal hypoplasia: A rare case report. Indian J Dermatol 2015;60:106
What was known?
FDH is a rare genetic disorder with developmental anomalies of, cutaneous skeletal, dental, and ocular systems, and facial dysmorphism.
| Introduction|| |
Focal dermal hypoplasia (FDH) is a rare mesoectodermal disorder inherited by an X-linked dominant gene, which is lethal in homozygous males. Goltz syndrome was first described by Leibermann as atrophoderma linearis maculosa et papillomatosis congenitalis.  Subsequently in 1962, Goltz et al. reported three cases of FDH and distinguished them as separate entities.  There are several 100 cases described in the literature but only a few cases from India. We describe a rare case of Goltz syndrome along with the unusual feature of the presence of an atrial septal defect and supernumerary nipples which has not been reported earlier in the literature.
| Case Report|| |
An eight-month-old term female child, born of non-consanguineous marriage presented with multiple hypopigmented skin lesions on the trunk and extremities from birth. They appeared as linear erosions at birth that healed gradually within a few days, leaving behind hypopigmentation interspersed with hyperpigmentation at the periphery. Perinatal history was uneventful. She had abnormalities of limbs and nails from birth. Her developmental milestones were delayed. Past history was remarkable for exomphalos minor that was operated and atrial septal defect at birth that had undergone spontaneous closure after three months of age. None of the siblings or family members of the child had similar symptoms.
General examination revealed microcephaly, hypertelorism, megalopinna, low-set ears, a broad nasal bridge, and a pointed chin. Cutaneous examination revealed multiple hypopigmented atrophic linear streaks, and macules of varying sizes present on the forehead, neck, trunk, thighs, gluteal region, genitalia, and upper and lower limbs along the lines of blaschko [Figure 1] and [Figure 2]. There was syndactyly of left foot and lobster claw deformity (ectrodactyly) of right foot [Figure 3]. She had supernumerary nipples [Figure 4]. A few skin-colored growths were present over the proximal nail fold of the right middle finger and right foot. Nails were dystrophic. Hairs and oral mucosa were normal. Systemic examination was normal.
|Figure 1: Multiple hypopigmented atrophic macules present linearly and in reticulate grouping on the trunk along the lines of blaschko|
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|Figure 2: Multiple hypopigmented atrophic macules on the lower limbs along the lines of blaschko|
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|Figure 3: Syndactyly of left foot and ectrodactyly of right foot with changes in nails|
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Complete hemogram and serum chemistry profile were normal. Skin biopsy on the trunk showed focal spongiosis, occasional dyskeratotic keratinocytes, mild papillary edema, and focal papillary dermal fibrosis with superficial perivascular lymphocytic infiltrate [Figure 5]. Ophthalmological examination and computed tomography scan of brain were normal. X-ray of long bones was normal. Based on the clinical presentation and characteristic skeletal abnormalities, a diagnosis of Goltz syndrome was made.
|Figure 5: The epidermis shows parakeratosis with occasional dyskeratotic cells with papillary edema and superficial perivascular lymphocytic infiltrate in the dermis (H and E, ×40)|
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| Discussion|| |
Goltz syndrome (FDH) is a rare inherited disorder characterized by developmental defects of the skin in conjunction with ocular, dental, and skeletal abnormalities. Ninety percent of the reported cases are females, suggesting an X-linked dominant mode of inheritance.  When the disorder occurs in males, it probably represents a mosaic condition. The variation in severity among affected females is due to the mosaicism as a consequence of the Lyon hypothesis.  Mosaicism for mutations in the PORCN gene on chromosome Xp11.23 has been implicated as the genetic basis for FDH. Paller hypothesized that the distribution pattern indicates that Wnt proteins stimulate epidermal-dermal signals to induce changes in the dermis. 
The hallmark of FDH is thinning of the dermis, which results in depressed linear lesions and soft, reddish-yellow outpouchings of the skin caused by herniation of subcutaneous fat. At birth, the lesions may present as blisters or erosions that leave behind typical atrophic scars that can mimic incontinentia pigmenti. Red, hypopigmented, or depigmented atrophic macules, arranged in a linear or blaschkoid pattern or in a reticulate grouping can be found on any part of the body, but typically involve the thighs, buttocks, and trunk.  Telangiectasias are commonly seen interspersed between the atrophic plaques. Multiple soft pinkish yellow to brown nodules can be present from birth particularly in the popliteal and cubital fossae.  Another characteristic feature is the development of raspberry-like papillomas around the lips, anus, and genitalia, and on the end of the digits. Other cutaneous changes reported are dryness associated with pruritus, photosensitivity, hyperkeratosis of palms and soles, sweating abnormalities, and dermatoglyphic changes. 
The second most common extracutaneous abnormality is skeletal defects seen in 60-70% of the patients. These include syndactyly, polydactyly, ectrodactyly, hypoplasia of the digits, and vertebral abnormalities like scoliosis, kyphosis, vertebral body fusions, and spina bifida. Lobster claw deformity (split hand or split foot) is a major distinct feature of this condition.  In 20% of the cases, there is osteopathia striata, which are longitudinal linear striations in the metaphyses of the long bones seen on radiography. Associated ocular abnormalities are colobomas, microphthalmia, microcornea, and ectopia lentis. , Patients with FDH have a typical facial appearance with asymmetry, pointed chin, maxillary hypoplasia, broad nasal tip with a narrow bridge, and notching of alae nasi. Other associated abnormalities include enamel defects, sparse and brittle hair, nail dystrophy, short stature, mental retardation, hearing loss, microcephaly, cleft lip and palate, duodenal atresia, intestinal malrotation, umbilical, inguinal, epigastric, or diaphragmatic hernia, horseshoe kidneys, bicornuate uterus, and cardiac defects like patent ductus arteriosus, ventricular septal defect, and hypoplasia of lungs. Rare cases of absent nipples are also reported.  In our case, the child had supernumerary nipples.
Skin biopsy of an atrophic lesion showed a normal or thinned epidermis overlying a severely hypoplastic dermis with adipose tissue impinging on the epidermis. Electron microscopy revealed loosely arranged abnormally scattered collagen bundles.  Gene sequence analysis for detection of the PORCN gene mutation could also be carried out.
The most common differential diagnosis for FDH is incontinentia pigmenti, Rothmund-Thomson syndrome, and MIDAS (MIDAS: Microphthalmia, dermal aplasia, and sclerocornea syndrome). The linear pattern, stages of pigmentary changes, eosinophilic spongiosis, and absence of fat herniation rules out incontinentia pigmenti. Other differential diagnosis to be considered is epidermal nevus, Bart syndrome, Adams-Oliver syndrome, ectodermal dysplasia, and congenital erosive and vesicular dermatoses.  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.
Involvement of the skin with skeletal abnormalities supports a clinical diagnosis of FDH and is thus present in all reported cases. In our case, the child had typical features of Goltz syndrome, but the rare association with atrial septal defect and supernumerary nipples has not been described in previous reports.
| References|| |
Liebermann S. Atrophoderma linearis maculosa et papillomatosis congenitalis. Acta Derm Vener 1935;16:476-84.
Goltz RW, Peterson WC Jr, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Derm 1962;86:708-17.
Giam YC, Khoo BP. What syndrome is this? Focal dermal hypoplasia (Goltz syndrome). Pediatr Dermatol 1998;15:399-402.
Mahé A, Couturier J, Mathé C, Lebras F, Bruet A, Fendler JP. Minimal focal dermal hypoplasia in a man: a case of father to daughter transmission. J Am Acad Dermatol 1991;25:879-81.
Paller AS. Wnt signalling of focal dermal hypoplasia. Nat Genet 2007;39:820-1.
Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol 1992;128:1108-11.
Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet 1990;27:180-7.
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Del Carmen Boente M, Asial RA, Winik BC. Focal dermal hypoplasia: Ultrastructural abnormalities of the connective tissue. J Cutan Pathol 2007;34:181-7.
Jain A, Chander R, Garg T, Nikita, Shetty GS. A rare multisystem disorder: Goltz syndrome-case report and brief overview. Dermatol Online J 2010;16:2.
What is new?
The association of atrial septal defect and supernumerary nipples with FDH was an unusual feature of our case.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]