J Med Cases

Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc

Journal website https://jmc.elmerpub.com

Case Report

Volume 17, Number 8, August 2026, pages 415-423

Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights

↓ Figure 1. CT scan of abdomen and pelvis showing generalized decreased bone density with multiple compression fractures of thoracolumbar spine. CT: computed tomography.

↓ Figure 2. Femur bone mass density. DEXA scan showing a right proximal femur Z-score of −2.7, and a right femoral neck Z-score of −2.8. BMD: bone mineral density; DEXA: dual-energy X-ray absorptiometry.

↓ Figure 3. Spine bone mass density. DEXA scan showing a lumbar spine Z-score of −3.0. DEXA: dual-energy X-ray absorptiometry.

↓ Figure 4. Hip X-ray. The right-sided intramedullary nail is abutting the right iliac wing with no signs of hardware loosening or metallic fracture. There are no fractures or dislocations noted in the pelvic bones.

↓ Figure 5. Scoliosis series X-ray. Scoliosis of the thoracolumbar spine is noted as reversed S-shape. The upper curvature has a convexity to the left side and affects the mid-thoracic spine. The lower convexity is affecting the thoracolumbar junction with convexity to the right side. Asymmetry of the vertebral body heights is also noted also at the described scoliotic curvatures.

↓ **Table 1.** Laboratory Evaluation of Case 1
Exam	Result	Reference range
Hb: hemoglobin; WBC: white blood cell; HbA1c: hemoglobin A1c; eGFR: estimated glomerular filtration rate; TV urine: 24-h urine total volume; U24 calcium: 24-h urinary calcium; U24 creatinine: 24-h urinary creatinine; ALT: alanine aminotransferase; AST: aspartate aminotransferase; LH: luteinizing hormone; FSH: follicle-stimulating hormone; TSH: thyroid-stimulating hormone; FT4: free thyroxine; PTH: parathyroid hormone; LDL: low-density lipoprotein cholesterol; HDL: high-density lipoprotein cholesterol; Alpha 1: alpha-1 globulin; Alpha 2: alpha-2 globulin; Beta 1: beta-1 globulin; Beta 2: beta-2 globulin; Gamma: gamma globulin; Pro El Interp: protein electrophoresis interpretation; M spike: monoclonal protein spike; VIT D 25 OH: 25-hydroxyvitamin D.
Hb	164	130–170 g/L
WBC	9.31	4.0–11.0 × 10⁹/L
Platelet	252	150–400 × 10⁹/L
HbA1c	5.1%	≤ 5.6%
Creatinine	59	60–110 µmol/L
eGFR	145	> 90 mL/min/1.73 m²
Adjusted calcium	2.34	2.15–2.55 mmol/L
Phosphorus	0.66	0.8–1.5 mmol/L
Magnesium	0.84	0.7–1.0 mmol/L
Uric acid	366	210–420 µmol/L
TV urine	2,500	1,000–2,500/24 h
U24 calcium	4.58	2.5–7.5 mmol/24 h
U24 creatinine	13.5	9–18 mmol/24 h
Total bilirubin	11.4	5–21 µmol/L
Alkaline phosphatase	77	40–129 U/L
Total protein	79	60–80 g/L
Albumin	52	35–50 g/L
ALT	17	≤ 41 U/L
AST	20	≤ 40 U/L
Testosterone total	21.09	8.0–30.0 nmol/L
LH	0.98	1.7–8.6 IU/L
FSH	2.10	1.5–12.4 IU/L
Prolactin	144.93	86–324 mIU/L
TSH	1.44	0.4–4.0 mIU/L
FT4	12.15	10–23 pmol/L
PTH	3.110	1.6–6.9 pmol/L
LDL	3.92	< 2.6 mmol/L
HDL	1.26	≥ 1.0 mmol/L
Total cholesterol	5.40	< 5.2 mmol/L
Triglycerides	0.67	< 1.7 mmol/L
Albumin E	43.1	35–50 g/L
Alpha 2	6.3	4.8–10.5%
Beta 1	4.7	4.7–7.2%
Beta 2	4.8	3.2–6.5%
Gamma	10.3	9–18%
Pro El Interp	Normal	Normal pattern
Alpha 1	2.8	1.4–3.0%
M spike g/L	0	Absent
M spike %	0	Absent
25-OH Vit D	80.7	50–125 nmol/L
Tissue transglutaminase IgA antibody	0.89	< 10 U/mL (negative)

↓ Table 1. Laboratory Evaluation of Case 1

Exam

Result

Reference range

Hb: hemoglobin; WBC: white blood cell; HbA1c: hemoglobin A1c; eGFR: estimated glomerular filtration rate; TV urine: 24-h urine total volume; U24 calcium: 24-h urinary calcium; U24 creatinine: 24-h urinary creatinine; ALT: alanine aminotransferase; AST: aspartate aminotransferase; LH: luteinizing hormone; FSH: follicle-stimulating hormone; TSH: thyroid-stimulating hormone; FT4: free thyroxine; PTH: parathyroid hormone; LDL: low-density lipoprotein cholesterol; HDL: high-density lipoprotein cholesterol; Alpha 1: alpha-1 globulin; Alpha 2: alpha-2 globulin; Beta 1: beta-1 globulin; Beta 2: beta-2 globulin; Gamma: gamma globulin; Pro El Interp: protein electrophoresis interpretation; M spike: monoclonal protein spike; VIT D 25 OH: 25-hydroxyvitamin D.

164

130–170 g/L

WBC

9.31

4.0–11.0 × 10⁹/L

Platelet

252

150–400 × 10⁹/L

HbA1c

5.1%

≤ 5.6%

Creatinine

60–110 µmol/L

eGFR

145

> 90 mL/min/1.73 m²

Adjusted calcium

2.34

2.15–2.55 mmol/L

Phosphorus

0.66

0.8–1.5 mmol/L

Magnesium

0.84

0.7–1.0 mmol/L

Uric acid

366

210–420 µmol/L

TV urine

2,500

1,000–2,500/24 h

U24 calcium

4.58

2.5–7.5 mmol/24 h

U24 creatinine

13.5

9–18 mmol/24 h

Total bilirubin

11.4

5–21 µmol/L

Alkaline phosphatase

40–129 U/L

Total protein

60–80 g/L

Albumin

35–50 g/L

ALT

≤ 41 U/L

AST

≤ 40 U/L

Testosterone total

21.09

8.0–30.0 nmol/L

0.98

1.7–8.6 IU/L

FSH

2.10

1.5–12.4 IU/L

Prolactin

144.93

86–324 mIU/L

TSH

1.44

0.4–4.0 mIU/L

FT4

12.15

10–23 pmol/L

PTH

3.110

1.6–6.9 pmol/L

LDL

3.92

< 2.6 mmol/L

HDL

1.26

≥ 1.0 mmol/L

Total cholesterol

5.40

< 5.2 mmol/L

Triglycerides

0.67

< 1.7 mmol/L

Albumin E

43.1

35–50 g/L

Alpha 2

6.3

4.8–10.5%

Beta 1

4.7

4.7–7.2%

Beta 2

4.8

3.2–6.5%

Gamma

10.3

9–18%

Pro El Interp

Normal

Normal pattern

Alpha 1

2.8

1.4–3.0%

M spike g/L

Absent

M spike %

Absent

25-OH Vit D

80.7

50–125 nmol/L

Tissue transglutaminase IgA antibody

0.89

< 10 U/mL (negative)

↓ **Table 2.** Laboratory Evaluation of Case 2
Exam	Result	Reference range
WBC: white blood cell; Hb: hemoglobin; HbA1c: hemoglobin A1c; BUN: blood urea nitrogen; eGFR: estimated glomerular filtration rate; ALT: alanine aminotransferase; AST: aspartate aminotransferase; LH: luteinizing hormone; FSH: follicle-stimulating hormone; TSH: thyroid-stimulating hormone; PTH: parathyroid hormone; LDL: low-density lipoprotein cholesterol; HDL: high-density lipoprotein cholesterol; 25-OH Vit D: 25-hydroxyvitamin D.
WBC	6.10	4.0–11.0 × 10⁹/L
Hb	118	115–155 g/L
Platelet	260	150–400 × 10⁹/L
Ferritin	9.4	15–150 µg/L
HbA1C	5.5	≤ 5.6% normal
Creatinine	43	45–90 µmol/L
BUN	4.3	2.5–7.1 mmol/L
eGFR	153	> 90 mL/min/1.73 m²
Sodium	138	135–145 mmol/L
Potassium	3.8	3.5–5.0 mmol/L
Adjusted calcium	2.21	2.15–2.55 mmol/L
Phosphorus	1.28	0.8–1.5 mmol/L
Magnesium	0.86	0.7–1.0 mmol/L
ALT	23	≤ 33 U/L
AST	19	≤ 32 U/L
Total bilirubin	6.3	5–21 µmol/L
Alkaline phosphatase	70	35–104 U/L
Total protein	63	60–80 g/L
FSH	4.34	3.5–12.5 IU/L (follicular), 1.7–7.7 IU/L (luteal)
LH	6.91	2.4–12.6 IU/L (follicular), 0.5–16.9 IU/L (luteal)
Testosterone total	2.14	0.3–2.4 nmol/L
TSH	1.56	0.4–4.0 mIU/L
Prolactin	300.9	102–496 mIU/L
Total 25-OH Vit D	64.0	50–125 nmol/L
PTH	11.49	1.6–6.9 pmol/L
LDL	3.49	< 3.0 mmol/L
HDL	1.19	> 1.0 mmol/L
Total cholesterol	5.05	< 5.2 mmol/L
Triglycerides	1.69	< 1.7 mmol/L

↓ Table 2. Laboratory Evaluation of Case 2

Exam

Result

Reference range

WBC: white blood cell; Hb: hemoglobin; HbA1c: hemoglobin A1c; BUN: blood urea nitrogen; eGFR: estimated glomerular filtration rate; ALT: alanine aminotransferase; AST: aspartate aminotransferase; LH: luteinizing hormone; FSH: follicle-stimulating hormone; TSH: thyroid-stimulating hormone; PTH: parathyroid hormone; LDL: low-density lipoprotein cholesterol; HDL: high-density lipoprotein cholesterol; 25-OH Vit D: 25-hydroxyvitamin D.

WBC

6.10

4.0–11.0 × 10⁹/L

118

115–155 g/L

Platelet

260

150–400 × 10⁹/L

Ferritin

9.4

15–150 µg/L

HbA1C

5.5

≤ 5.6% normal

Creatinine

45–90 µmol/L

BUN

4.3

2.5–7.1 mmol/L

eGFR

153

> 90 mL/min/1.73 m²

Sodium

138

135–145 mmol/L

Potassium

3.8

3.5–5.0 mmol/L

Adjusted calcium

2.21

2.15–2.55 mmol/L

Phosphorus

1.28

0.8–1.5 mmol/L

Magnesium

0.86

0.7–1.0 mmol/L

ALT

≤ 33 U/L

AST

≤ 32 U/L

Total bilirubin

6.3

5–21 µmol/L

Alkaline phosphatase

35–104 U/L

Total protein

60–80 g/L

FSH

4.34

3.5–12.5 IU/L (follicular), 1.7–7.7 IU/L (luteal)

6.91

2.4–12.6 IU/L (follicular), 0.5–16.9 IU/L (luteal)

Testosterone total

2.14

0.3–2.4 nmol/L

TSH

1.56

0.4–4.0 mIU/L

Prolactin

300.9

102–496 mIU/L

Total 25-OH Vit D

64.0

50–125 nmol/L

PTH

11.49

1.6–6.9 pmol/L

LDL

3.49

< 3.0 mmol/L

HDL

1.19

> 1.0 mmol/L

Total cholesterol

5.05

< 5.2 mmol/L

Triglycerides

1.69

< 1.7 mmol/L

↓ **Table 3.** Comparison of Both Cases
	Case 1	Case 2
BMD: bone mineral density; PTH: parathyroid hormone.
Age	34 years old	35 years old
Gender	Male	Female
Major clinical features	Osteoporosis, multiple fragility fractures, congenital hip dislocation, and low BMD	Prior steroid exposure, obesity, wheelchair dependence, low ferritin, and elevated PTH, scleroderma, longstanding skeletal fragility, scoliosis, and prior hip fixation and low BMD
Fracture history	Thoracolumbar compression fractures, left ankle fracture	Right hip fracture
BMD values	Right proximal femur Z-score of −2.7, and right femoral neck Z-score of −1.8; a lumbar spine Z-score of −3.0	Lumbar spine Z-score of–1.9, right proximal femur Z-score –0.6, and right femoral neck Z-score –2.9
Genetic variant	GORAB, NM_152281.2.306dup (p.(Pro103Thrfs*20))	GORAB, NM_152281.2.306dup (p.(Pro103Thrfs*20))
Treatment	Romosozumab for 1 year, cholecalciferol 50,000 IU/month, calcium carbonate 600 mg/day	Annual zoledronic acid infusion, along with calcium and vitamin D supplementation
Follow-up and outcomes	Romosozumab was administered for 8 doses initially and later completed with an additional 4 doses; BMD remained stable, followed by treatment with zoledronic acid	No new fracture or adverse event report during 3-year follow-up, and 5% BMD improved

↓ Table 3. Comparison of Both Cases

Case 1

Case 2

BMD: bone mineral density; PTH: parathyroid hormone.

Age

34 years old

35 years old

Gender

Male

Female

Major clinical features

Osteoporosis, multiple fragility fractures, congenital hip dislocation, and low BMD

Prior steroid exposure, obesity, wheelchair dependence, low ferritin, and elevated PTH, scleroderma, longstanding skeletal fragility, scoliosis, and prior hip fixation and low BMD

Fracture history

Thoracolumbar compression fractures, left ankle fracture

Right hip fracture

BMD values

Right proximal femur Z-score of −2.7, and right femoral neck Z-score of −1.8; a lumbar spine Z-score of −3.0

Lumbar spine Z-score of–1.9, right proximal femur Z-score –0.6, and right femoral neck Z-score –2.9

Genetic variant

GORAB, NM_152281.2.306dup (p.(Pro103Thrfs*20))

Treatment

Romosozumab for 1 year, cholecalciferol 50,000 IU/month, calcium carbonate 600 mg/day

Annual zoledronic acid infusion, along with calcium and vitamin D supplementation

Follow-up and outcomes

Romosozumab was administered for 8 doses initially and later completed with an additional 4 doses; BMD remained stable, followed by treatment with zoledronic acid

No new fracture or adverse event report during 3-year follow-up, and 5% BMD improved