Focal Dermal Hypoplasia
Conditions
Brief summary
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
Detailed description
Focal dermal hypoplasia (FDH) is a rare genetic disorder of ectodermal dysplasia caused by mutation in the Porcupine Homolog (Drosophila) (PORCN) gene which results in skin, hair, limb and eye abnormalities. Short stature and underweight have been noted in the majority of these patients. Since the pituitary gland arises from ectodermal tissue, the investigators suspect that pituitary deficiencies may contribute to poor linear growth. This study will examine the nutritional, gastrointestinal and endocrine mechanisms that may account for linear growth stunting and low weight that is observed in FDH. The investigators will utilize standard clinical tools including a bone age xray, glucagon stimulation test to evaluate growth hormone status, baseline laboratory analysis of hormone and nutritional/gastrointestinal markers, food diaries, symptom diaries, and growth charts.
Interventions
None listed
Sponsors
University of Colorado, Denver
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
3 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* patients with focal dermal hypoplasia * between the ages of 3 and 18 years * ability to fast overnight, and * weight at least 9 kg
Exclusion criteria
* pregnant individuals, * weight less than 9 kg
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Determination of Growth Hormone Deficiency | 1 day | Glucagon growth hormone stimulation test |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Determination of poor growth | 1 day | Bone age x-rays will be read independently and compared to the accepted standards and quantified as a standard deviation from chronological age. |
| Determination of poor weight gain | 1 day | Evaluation of IGF-1 levels which are frequently low in children who are underweight or poorly nourished. |
Outcome results
None listed