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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

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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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)

Mentions: 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.


Focal dermal hypoplasia: a rare case report.

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

The epidermis shows parakeratosis with occasional dyskeratotic cells with papillary edema and superficial perivascular lymphocytic infiltrate in the dermis (H and E, ×40)
© Copyright Policy - open-access
Related In: Results  -  Collection

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

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)
Mentions: 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.

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