Individuals with hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) can exhibit few or many of the associated clinical features:
Integument
- Skin abnormalities are the earliest findings. Of note, skin lesions – particularly facial poikiloderma – improve with time.
- Poikiloderma appears during early infancy, typically in the first six months. It is mainly localized to the face. Transient exacerbations of facial erythema are seen following sun exposure. Mottled pigmentation is also a constituent part of poikiloderma.
- Hypohidrosis with heat intolerance is observed in most.
- Lymphedema of the lower and/or upper extremities may be present in childhood and is usually mild; it can be complicated by episodes of cellulitis.
- Chronic erythematous and scaly skin lesions described as eczema-like, ichthyosis-like, or psoriasis-like lesions are often observed on the extremities.
- Sclerosis of the digits and mild palmoplantar keratoderma may also be observed.
- Hair/nails. Sparse scalp hair and sparse or absent eyelashes and/or eyebrows are found in almost all affected individuals with variable severity. Three affected individuals had mild nail dysplasia.
Muscle
- Muscle contractures are usually seen in childhood and can be present as early as age two. The most commonly affected muscles are the triceps surae, leading to a shortening of the Achilles tendons and varus deformities of the feet. Contractures of upper limbs (biceps brachii and carpal extensors) are also observed.
- Myopathy. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs; the first manifestations (observed in lower limbs) are proximal rather than distal. Muscle weakness is variable and ranges from loss of ambulation in childhood to absence of symptoms in adulthood (Mercier, et al. 2013, Mercier, et al. 2015, Seo, et al. 2016, Takeichi, et al. 2017).
- Muscle weakness is generally associated with muscle atrophy and sometimes thoracolumbar scoliosis.
- Serum creatine kinase is either normal or slightly increased. When performed, electromyography may show a normal or myopathic pattern.
Respiratory
- Recurrent bronchitis can be observed. Abnormal lung function with restrictive pulmonary disease is common.
- Some adults develop progressive interstitial pulmonary fibrosis, which manifests as progressive breathlessness and dry cough; it can be life-threatening within three to four years after the first respiratory symptoms appear.
Gastrointestinal
- Pancreatic exocrine insufficiency (common in affected individuals) typically begins in childhood. Manifestations include fatty stools and diarrhea leading to chronic malabsorption of fats and lipid-soluble vitamins if not treated. Diagnosis is confirmed based on fecal elastase deficiency.
- Liver impairment (reported in a few affected individuals) manifests initially as mildly elevated transaminases, alkaline phosphatase, gamma-glutamyl transferase, and/or bilirubin. One individual had hepatomegaly and cholestasis.
Other features
- Relative short stature and/or poor weight gain associated with delayed puberty have been reported.
- Hematologic findings include eosinophilia or mild thrombocytopenia in some. Marrow hypocellularity was reported in a multiplex family (Seo, et al. 2016).
- Hypothyroidism was described in a 14-year-old girl (Takeichi, et al. 2017).
- Cognitive development and function are normal. Of note, one individual had schizophrenia (Mercier, et al. 2015), which could be an incidental association.