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Focal dermal hypoplasia: a rare case report.

Srinivas SM, Hiremagalore R - Indian J Dermatol (2015 Jan-Feb)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, India.

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.

No MeSH data available.


Related in: MedlinePlus

Syndactyly of left foot and ectrodactyly of right foot with changes in nails
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Figure 3: Syndactyly of left foot and ectrodactyly of right foot with changes in nails

Mentions: 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 [Figures 1 and 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.


Focal dermal hypoplasia: a rare case report.

Srinivas SM, Hiremagalore R - Indian J Dermatol (2015 Jan-Feb)

Syndactyly of left foot and ectrodactyly of right foot with changes in nails
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4318042&req=5

Figure 3: Syndactyly of left foot and ectrodactyly of right foot with changes in nails
Mentions: 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 [Figures 1 and 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.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, India.

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.

No MeSH data available.


Related in: MedlinePlus