10 July 2024
: Case report 
Fanconi Anemia in a 31-Year-Old Patient with Multiple Malignant Tumor Foci, Including Appendiceal Cancer, and Multiple Coexisting Pathologies
Rare disease
Michał Dyaczyński1ABDEF*, Luiza Sannikova1ABDEF, Daniel Worek2ADDOI: 10.12659/AJCR.943880
Am J Case Rep 2024; 25:e943880
Table 1. Summarized medical history of the patient.
| Category | Information |
|---|---|
| Sex | Male |
| Age | 31 years old |
| Height | 1.5 meters |
| Family history | No family history |
| Bone marrow transplant | Yes |
| Blood group before transplant | B Rh (+), CcDEe K(−) |
| Chromosomal abnormalities | Increase in proportion of cells with chromosomal breaks, significant increase in breaks per cell |
| Bone marrow abnormalities | Bone marrow hypoplasia |
| Urinary system abnormalities | Right kidney agenesis, duplication of left kidney’s renal pelvis and calyces |
| Bone system pathology | Absence of big toe and first metatarsal bone in both hands, skeletal age delay |
| Digestive system abnormalities | Barrett’s esophagus, Elster’s polyps, transverse colon polyp, cholestatic liver disease |
| Endocrine disorders | Hypothyroidism, hypogonadism |
| Neoplasms | Status post-radical surgery for lower lip cancer, tumor on skin of lower eyelid of left eye, Appendiceal carcinoma (Histological type: Mucinous, focal mucocellular malignancy, Grade G3) |
| Other | Arterial hypertension, skin rash typical of graft-versus-host disease (GVHD), diffuse erythematous micropapular lesions covering 80% of skin, affecting palms of hands, soles of feet, and pronounced facial erythema |