Table 3. [Disorders with Features of Poikiloderma in the Differential Diagnosis of Kindler Syndrome]. - GeneReviews®

Gene(s)	Disorder	MOI	Clinical Characteristics
ACD CTC1 DKC1 NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53	Dyskeratosis congenita	XL AD AR	Dysplastic nails, lacy reticular pigmentation of upper chest &/or neck. Poikiloderma & nail dystrophy occur in late childhood.	Oral leukoplakia. ↑ risk for progressive bone marrow failure, myelodysplastic syndrome or acute myelogenous leukemia, solid tumors, & pulmonary fibrosis.
ANAPC1 RECQL4	Rothmund-Thomson syndrome	AR	Rash that typically develops ages 3-6 mos (occasionally as late as age 2 yrs) as erythema, swelling, & blistering on face, then spreading to buttocks & extremities. Over mos to yrs, rash evolves into poikiloderma. Sparse hair, eyelashes, &/or eyebrows.	Small size; skeletal & dental abnormalities; juvenile cataracts; ↑ risk for cancer, esp osteosarcoma
BLM	Bloom syndrome	AR	Skin at birth & during early infancy appears normal. During 1st or 2nd yr of life, typically following sun exposure, red, sun-sensitive rash appears on nose & cheeks (sometimes also on dorsa of hands & forearms). Rash varies in severity & extent & is usually characterized by telangiectasia but in others is described as poikiloderma.	Severe pre- & postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy & early childhood, & short stature throughout postnatal life. Gastroesophageal reflux is common.
CD151	KS-like epidermolysis bullosa ¹	AR	Facial freckling, poikiloderma, atrophy of skin, & acrogeria of backs of hands on sun-exposed areas. Unlike KS, which presents w/blistering during childhood, 1 person described ¹ presented widespread blistering & erosions primarily in pretibial area in adulthood. Dystrophic nails in all fingers & toes & early-onset alopecia were also observed.	The person described ¹ had history of nephropathy manifesting w/proteinuria.
DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 POLH XPA XPC	Xeroderma pigmentosum (XP)	AR	Sun sensitivity w/marked freckle-like pigmentation of face before age 2 yrs. Sunlight-induced ocular involvement. Greatly ↑ risk of sunlight-induced cutaneous neoplasms. XP typically does not have acral bullae whereas in KS acral bullae are observed in childhood.	~25% of affected persons have neurologic manifestations.
FAM111B	Hereditary fibrosing poikiloderma w/tendon contractures, myopathy, & pulmonary fibrosis	AD	Poikiloderma (typically beginning in 1st 6 mos & mainly localized to face), hypohidrosis w/heat intolerance, mild lymphedema of extremities, chronic erythematous & scaly skin lesions on extremities, sclerosis of digits, & mild palmoplantar keratoderma. Typically scalp hair, eyelashes, &/or eyebrows are sparse; nail dysplasia may be assoc.	Muscle contractures usually seen in childhood; progressive weakness of proximal & distal muscles of all 4 limbs
USB1	Poikiloderma w/neutropenia (Clericuzio-type poikiloderma w/neutropenia) ²	AR	Inflammatory eczematous rash (ages 6-12 mos) followed by post-inflammatory poikiloderma (age >2 yrs); nail dystrophy & palmar/plantar hyperkeratosis	Chronic noncyclic neutropenia typically assoc w/recurrent sinopulmonary infections in 1st 2 yrs of life & (often) bronchiectasis. ↑ risk for myelodysplastic syndrome. Reactive airway disease.

Gene(s)

Disorder

MOI

Clinical Characteristics

Ectodermal Findings

Other Findings

ACD
CTC1
DKC1
NHP2
NOP10
PARN
RTEL1
TERC
TERT
TINF2
WRAP53

Dyskeratosis congenita

XL
AD
AR

Dysplastic nails, lacy reticular pigmentation of upper chest &/or neck. Poikiloderma & nail dystrophy occur in late childhood.

Oral leukoplakia. ↑ risk for progressive bone marrow failure, myelodysplastic syndrome or acute myelogenous leukemia, solid tumors, & pulmonary fibrosis.

ANAPC1
RECQL4

Rothmund-Thomson syndrome

Rash that typically develops ages 3-6 mos (occasionally as late as age 2 yrs) as erythema, swelling, & blistering on face, then spreading to buttocks & extremities. Over mos to yrs, rash evolves into poikiloderma. Sparse hair, eyelashes, &/or eyebrows.

Small size; skeletal & dental abnormalities; juvenile cataracts; ↑ risk for cancer, esp osteosarcoma

BLM

Bloom syndrome

Skin at birth & during early infancy appears normal. During 1st or 2nd yr of life, typically following sun exposure, red, sun-sensitive rash appears on nose & cheeks (sometimes also on dorsa of hands & forearms). Rash varies in severity & extent & is usually characterized by telangiectasia but in others is described as poikiloderma.

Severe pre- & postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy & early childhood, & short stature throughout postnatal life. Gastroesophageal reflux is common.

CD151

KS-like epidermolysis bullosa ¹

Facial freckling, poikiloderma, atrophy of skin, & acrogeria of backs of hands on sun-exposed areas. Unlike KS, which presents w/blistering during childhood, 1 person described ¹ presented widespread blistering & erosions primarily in pretibial area in adulthood. Dystrophic nails in all fingers & toes & early-onset alopecia were also observed.

The person described ¹ had history of nephropathy manifesting w/proteinuria.

DDB2
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
POLH
XPA
XPC

Xeroderma pigmentosum (XP)

Sun sensitivity w/marked freckle-like pigmentation of face before age 2 yrs. Sunlight-induced ocular involvement. Greatly ↑ risk of sunlight-induced cutaneous neoplasms. XP typically does not have acral bullae whereas in KS acral bullae are observed in childhood.

~25% of affected persons have neurologic manifestations.

FAM111B

Hereditary fibrosing poikiloderma w/tendon contractures, myopathy, & pulmonary fibrosis

Poikiloderma (typically beginning in 1st 6 mos & mainly localized to face), hypohidrosis w/heat intolerance, mild lymphedema of extremities, chronic erythematous & scaly skin lesions on extremities, sclerosis of digits, & mild palmoplantar keratoderma. Typically scalp hair, eyelashes, &/or eyebrows are sparse; nail dysplasia may be assoc.

Muscle contractures usually seen in childhood; progressive weakness of proximal & distal muscles of all 4 limbs

USB1

Poikiloderma w/neutropenia (Clericuzio-type poikiloderma w/neutropenia) ²

Inflammatory eczematous rash (ages 6-12 mos) followed by post-inflammatory poikiloderma (age >2 yrs); nail dystrophy & palmar/plantar hyperkeratosis

Chronic noncyclic neutropenia typically assoc w/recurrent sinopulmonary infections in 1st 2 yrs of life & (often) bronchiectasis. ↑ risk for myelodysplastic syndrome. Reactive airway disease.

From: Kindler Syndrome

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

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