Table 1. Comparison of clinical features of families with SLC29A3 mutations from this report and those reported with H syndrome and PHID syndrome.

Clinical diagnosis	Faisalabad histiocytosis	Familial SHML	Familial Rosai Dorfman disease/Faisalabad histiocytosis	H syndrome		Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
OMIM reference	602782			612391
Literature reference	Moynihan et al (1998)	Kismet et al (2005)	Rossbach et al (2005)	Mohlo-Pessach et al (2008)		Cliffe et al (2009)
Inheritance	Autosomal recessive	Autosomal recessive	Autosomal recessive	Autosomal recessive		Autosomal recessive
Number of kindreds and ethnic origin	1 (Pakistani)	1 (Turkish)	1 (Palestinian)	10 (9 Arab and one Bulgarian)		5 (1 North American Caucasian, 1 Indian, 1 Pakistani and 2 Lebanese)
Skin			Hyper-pigmentation lower extremities	Hyperpigmented and hypertrichotic patches		Pigmented hypertrichotic skin lesions
Heart			Small ASD (one case)	PS, PDA
Ear	Sensorineural deafness	Sensorineural deafness	Sensorineural deafness	Sensorineural hearing loss		No deafness
Abdomen		Hepatomegaly		Hepatosplenomegaly		Hepatosplenomegaly
Growth	Short stature	Short stature	Short stature	Short stature		Short stature
Endocrine	Hypogonadism			GynaeocomastiaHypogonadism		Delayed puberty
Pancreas				Occasional hyperglycaemia		IDDM in >80% of casesSevere pancreatic exocrine deficiency (two cases)
Eyes	Eyelid swellings due to histiocytic deposits	Rapidly growing orbital mass with SHML histopathology	Uveitis (1/2 cases)	Exophthalmos with normal thyroid function
Hands	Progressive contractures of the fingers			Camptodactyly, flexion contractures of hands		No abnormality
Feet	Progressive contractures of toes			Hallux valgus with fixed flexion contractures of toe joints
Haematological features	Bone marrow : diverse cytoplasmic inclusions in phagocytes and reticulum cells.		The bone marrow: non-clonal myeloproliferativeProcess. Numerous monocytes and histiocytes and moderate myelofibrosis.	Red cell aplasia due to myelofibrosis in one patient
Lymph nodes	Generalised lymphadenopathy	Cervical, retropharyngeal and submandibular lymphadenopathy	Cervical, submandibular and, bilateral inguinal lymphadenopathy			Cervical, axillary and inguinal lymphadenopathy
Histopathology	Lymph node and eyelid show reactive features with small reactive lymphoid follicles and histiocytes within hyperglycaemiadilated hyperglycaemiasinuses hyperglycaemiaresembling hyperglycaemiaRosai-Dorfman disease	Lymph node: filling of lymph node sinuses with histiocytes, plasma cells and lymphocytes. Histiocytes had a benign appearance, were CD-1a negative but positive for CD68 and S-100.	Lymph node: nodal capsular fibrosis and chronic inflammation, prominent sinus histiocytes.	Skin lesions show polyclonal perivascular lymphohistiocytic infiltration with numerous plasma cells in the dermis and subcutis
Other	Nasal mucosa swellingsContractures of the elbows and ankleProband: invasive ductal carcinoma grade 3 ER negative breast aged 43 years and carcinoma bladder (grade 3 papillary TCC) age 46 years		Intra-uterine fracturesVentriculomegaly with communicating hydrocephalus and right lambdoid suture stenosis with subsequent plagiocephalyPectus carinatum
SLC29A3 mutations	c.300+1G>A	p.Gly437Argp.Phe103X	p.Gly437Arg	p.Gly427Serp.Gly437Argp.Leu349SerfsX56	p.Met116Arg; p.Tyr314ThrfsX91p.Gly437Arg; p.Glu444Xp.Thr449Arg

Clinical details were taken from published reports and unpublished updated information for the three families included in the present study. Previously unreported additional information is shown in bold. Mutation nomenclature used is based on reference sequence NM_018344.4. (Abbreviations: SHML = Sinus Histiocytosis with Massive Lymphadenopathy; IDDM = Insulin dependent diabetes mellitus; ASD = atrial septal defect; PS = Pulmonary stenosis; PDA = patent ductus areteriosis; TCC = transitional cell carcinoma).