Table 5. [Poikiloderma with Neutropenia: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Skin manifestations	Gentle skin care using bland emollients (creams or ointments) Use of sunscreens w/UVA & UVB protection to ↓ risk of skin cancer Sun-protective clothing
Consider strong topical steroid (e.g., fluocinonide, clobetasol) 2-3x/day for short duration for keratosis-associated discomfort due to inflammation.	If hyperkeratosis is very pruritic & there is no evidence of secondary dermatophyte infection
Another treatment option for hyperkeratosis is topical keratolytics: 40% urea Compounded salicylic acid mixed in cream or propylene glycol
Standard mgmt of skin cancers
Gingivitis / Dental caries	Dental cleaning every 3-6 mos w/treatment per dentist
Neutropenia	Based on lack of evidence of definitive benefit, G-CSF should be considered only in persons w/severe infections assoc w/very low neutrophil count.	Although administration of G-CSF to persons w/PN ↑ the ANC, to date no reports have indicated definitive benefit. ¹
Sinopulmonary, middle ear, & skin infections	Aggressive antibiotic treatment until clinical resolution & normalization of inflammatory markers. Annual influenza vaccine
Consider prophylactic antibiotics during winter, which may ↓ frequency of recurrent sinopulmonary infections [Authors, personal observation].	There is no rationale for immunoglobulin therapy in the absence of low immunoglobulin levels. Consider hyperbaric oxygen treatment for refractory cellulitis, as reported in 1 person. ²
Reactive airway disease	Standard treatment per pulmonologist
Bone marrow dysplasia / Malignancy	Mgmt of premyelodysplastic changes per hematologist/oncologist Standard mgmt of myelodysplastic syndrome & acute myelogenous leukemia
Growth deficiency	No known treatment	There is no evidence that growth hormone therapy ↑ linear growth.
Delayed puberty	Mgmt of hypogonadotropic hypogonadism per endocrinologist may incl hormone replacement therapy.
Osteoporosis	Treatment per orthopedist &/or endocrinologist
Developmental delay	Developmental support as needed

Manifestation/Concern

Treatment

Considerations/Other

Skin manifestations

Gentle skin care using bland emollients (creams or ointments)
Use of sunscreens w/UVA & UVB protection to ↓ risk of skin cancer
Sun-protective clothing

Consider strong topical steroid (e.g., fluocinonide, clobetasol) 2-3x/day for short duration for keratosis-associated discomfort due to inflammation.

If hyperkeratosis is very pruritic & there is no evidence of secondary dermatophyte infection

Another treatment option for hyperkeratosis is topical keratolytics:

40% urea
Compounded salicylic acid mixed in cream or propylene glycol

Standard mgmt of skin cancers

Gingivitis /
Dental caries

Dental cleaning every 3-6 mos w/treatment per dentist

Neutropenia

Based on lack of evidence of definitive benefit, G-CSF should be considered only in persons w/severe infections assoc w/very low neutrophil count.

Although administration of G-CSF to persons w/PN ↑ the ANC, to date no reports have indicated definitive benefit. ¹

Sinopulmonary, middle ear, & skin infections

Aggressive antibiotic treatment until clinical resolution & normalization of inflammatory markers.
Annual influenza vaccine

Consider prophylactic antibiotics during winter, which may ↓ frequency of recurrent sinopulmonary infections [Authors, personal observation].

There is no rationale for immunoglobulin therapy in the absence of low immunoglobulin levels.
Consider hyperbaric oxygen treatment for refractory cellulitis, as reported in 1 person. ²

Reactive airway disease

Standard treatment per pulmonologist

Bone marrow dysplasia /
Malignancy

Mgmt of premyelodysplastic changes per hematologist/oncologist
Standard mgmt of myelodysplastic syndrome & acute myelogenous leukemia

Growth deficiency

No known treatment

There is no evidence that growth hormone therapy ↑ linear growth.

Delayed puberty

Mgmt of hypogonadotropic hypogonadism per endocrinologist may incl hormone replacement therapy.

Osteoporosis

Treatment per orthopedist &/or endocrinologist

Developmental delay

Developmental support as needed

From: Poikiloderma with Neutropenia

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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